Sickle Cell Disease Research Papers (original) (raw)

A fuzzy logic-based system has been applied to a number of cases in medicine especially in the area of the development of diagnostic systems and has been discovered to produce accurate results. In this paper, a fuzzy logic-based system is... more

A fuzzy logic-based system has been applied to a number of cases in medicine especially in the area of the development of diagnostic systems and has been discovered to produce accurate results. In this paper, a fuzzy logic-based system is presented which is used to simulate a prediction model for determining the likelihood of Sickle Cell Anemia (SCA) in individuals given a 3-tuple record containing the level of fetal haemoglobin, genotype and the degree of Anemia. Knowledge was elicited from an expert at Federal Medical Centre, Owo, Ondo State, Nigeria and was used in developing the rule-base and simulated the prediction model using the MATLAB software. The results of the fuzzification and defuzzification of variables, inference engine definition and model testing was also presented and showed that the fuzzy logic based model will be very useful in the prediction of the likelihood of Sickle Cell Anemia (SCA) among Nigerian patients.

Results: We report data from the largest series so far of semen analyses in patients with sickle cell disease: 108 samples were analyzed, of which 76 were collected before treatment. We found that at least one sperm parameter was abnormal... more

Results: We report data from the largest series so far of semen analyses in patients with sickle cell disease: 108 samples were analyzed, of which 76 were collected before treatment. We found that at least one sperm parameter was abnormal in 91% of the patients before treatment, ...

Morphine is frequently used to treat painful episodes associated with sickle cell disease (SCD) but may fail to provide adequate analgesia in many patients. This concise review focuses on unique disease related changes in physiologic... more

Morphine is frequently used to treat painful episodes associated with sickle cell disease (SCD) but may fail to provide adequate analgesia in many patients. This concise review focuses on unique disease related changes in physiologic variables associated with SCD that impacts pharmacokinetics and pharmacodynamics of morphine and may contribute to the variability in analgesia. Emerging evidence suggests that the allelic variants in the genes involving the opioid (UGT2B7, OPRM1, and ABCB1 genes) and nonopioid system (COMT gene) can alter the efficacy of morphine. Am. J. Hematol., 2008. © 2007 Wiley-Liss, Inc.

The hemoglobinopathies are a group of inherited blood disorders caused by mutations in the globin genes and include sickle cell diseases (SCDs) and the αand β-thalassemias. Despite the public health burden these disorders pose, the only... more

The hemoglobinopathies are a group of inherited blood disorders caused by mutations in the globin genes and include sickle cell diseases (SCDs) and the αand β-thalassemias. Despite the public health burden these disorders pose, the only existing universal hemoglobinopathy screening and reporting activities in the United States are the state-based newborn screening (NBS) programs; evaluation data from various state NBS programs have been voluntarily submitted to a national database since 1989. 1 Screening for SCDs has been included on the recommended uniform NBS panel in all 50 states since 2006, but αand β-thalassemia screening and reporting of results for newborns is currently performed in only a few states. 2,3 However, many people at risk for a hemoglobinopathy who reside in the United States were born either before the implementation of NBS in their state or in a country without NBS. For these reasons, the true prevalence and burden of hemoglobinopathies in the United States is unknown. A comprehensive understanding of the impact of hemoglobinopathies in the United States is important to public health practitioners, researchers, health insurers, and policy makers. Over the past several years, multiple stakeholders have identified the need for improved data collection as a priority. In 2007, the American Society of Pediatric Hematology/Oncology Sickle Cell Summit identified population-based surveillance to measure outcomes as one of five major areas of opportunity for improvement in understanding and treating SCDs. 4 In 2008, the National Institutes of Health convened the Consensus Conference on Hydroxyurea Treatment for Sickle Cell Disease, which said that "a surveillance system is needed for patients with sickle cell disease. .. it should contain demographic, laboratory, clinical, treatment, and outcome information. " 5 As a result of these meetings, the National Heart, Lung, and Blood Institute/National Institutes of Health and the Division of Blood Disorders at the Centers for Disease Control and Prevention collaborated to develop a state-based surveillance system for SCD and thalassemia. The purpose of this article is to describe the efforts of the participating states and federal agencies to establish the infrastructure and data collection methods for the system and to provide data on the number and characteristics of individuals with a hemoglobinopathy diagnosis identified in each of the states.

Fagara zanthoxyloides Lam. (syn. Zanthoxylum zanthoxyloides) (Rutaceae) is the most cited Fagara species for the treatment and the prevention of sickle cell disease crisis. Sickle cell anemia (SCA) is a public health problem in many... more

Fagara zanthoxyloides Lam. (syn. Zanthoxylum zanthoxyloides) (Rutaceae) is the most cited Fagara species for the treatment and the prevention of sickle cell disease crisis. Sickle cell anemia (SCA) is a public health problem in many countries particularly in Africa. The present study was designed to evaluate the antisickling properties of three isomeric divanilloylquinic acids (3,4-O-divanilloylquinic acid or burkinabin A; 3,5-O-divanilloylquinic acid or burkinabin B and 4,5-O-divanilloylquinic acid or burkinabin C) identified previously by LC/MS/NMR analysis in the root bark of F. zanthoxyloides [Ouattara et al., 2004. LC/MS/NMR analysis of isomeric divanilloylquinic acids from the root bark of Fagara zanthoxyloides Lam. Phytochemistry 65, 1145-1151]. The three isomers showed interesting antisickling properties which increased from burkinabins A to C.

umented in 3.5% of episodes, but was strongly influenced bidity and mortality in sickle cell disease (SCD). Previous by age (14% of infants and 1.8% of patients Û10 years). ACS studies reported conflicting pictures of ACS making therawas... more

umented in 3.5% of episodes, but was strongly influenced bidity and mortality in sickle cell disease (SCD). Previous by age (14% of infants and 1.8% of patients Û10 years). ACS studies reported conflicting pictures of ACS making therawas most common in winter with children having the most peutic interventions difficult. The Cooperative Study of striking increase. Transfusion was used less frequently, but Sickle Cell Disease prospectively followed 3,751 patients enearlier in children. Young children were hospitalized for 5.4 rolled from birth to 66 years of age for ACS. Data on presentdays versus 9 days for adults. Fifty percent of adults had a ing signs and symptoms, laboratory findings, and hospital pain event in the 2 weeks preceding ACS and children were course were collected. There were 1,722 ACS episodes in more likely to have febrile events. The death rate was four 939 patients. Young children (age 2 to 4 years) presented times higher in adults than in children. Fatal cases generally with fever and cough, a negative physical exam, and rarely developed rapid pulmonary failure and one third were assohad pain. Adults were often afebrile and complained of ciated with bacteremia. Age has a striking effect on the clinishortness of breath, chills, and severe pain. Upper lobe discal picture of ACS. In children, ACS was milder and more ease was more common in children; multilobe and lower likely due to infection, whereas in adults ACS was severe, lobe disease affected adults more often. Severe hypoxia ocassociated with pain and had a higher mortality rate. curred in 18% of adults tested and could not be predicted ᭧

The aim of the present study was to assess and to compare the orbital and retinal vascular flow dynamics and resistance in patients with homozygous sickle cell disease with controls by means of duplex and color Doppler ultrasonography.... more

The aim of the present study was to assess and to compare the orbital and retinal vascular flow dynamics and resistance in patients with homozygous sickle cell disease with controls by means of duplex and color Doppler ultrasonography. Forty-six patients with homozygous sickle cell disease (SCD) and 20 healthy subjects were included in the study. None of the patients had objective signs of ocular involvement. Duplex and color Doppler ultrasonography of the ophthalmic, short posterior ciliary, and central retinal arterial flows of the both eyes were performed to assess peak systolic flow velocity (PSFV), end-diastolic flow velocity (EDFV), and mean flow velocity (MFV) through entire cardiac cycle with further calculation of resistive indices (RI) and pulsatility indices (PI). Ophthalmic arterial flow velocities were significantly increased in patients with SCD than in controls (P < 0.0001). Blood flow velocities of the central retinal artery were found to be significantly reduced (P < 0.0001) while RI and PI values were markedly higher (P < 0.02 and P < 0.03) in patients with SCD compared to controls. Reduction of retinal vascular flow velocities and increase of retinal vascular resistance were significantly related to the mean hemoglobin and hematocrit levels, red blood cell count, and mean corpuscular hemoglobin volume (P < 0.009, P < 0.01, P < 0.02, and P < 0.04, respectively). In conclusion, Doppler ultrasonography in patients with SCD who had no objective signs of ocular involvement allowed detection enhancement of ophthalmic flow velocities, reduced retinal flow velocities, and increased retinal vascular resistance, which are associated with haematological features. Am.

word count: 247 Word count: 2989 Number of tables: 3 Number of figures: 4 1. Bone necrosis (avascular) of the hip and/or shoulder: Pain in hip and/or shoulder and abnormalities of the hip and/or shoulder confirmed by X-ray or MRI.

Sickle Cell Disorder is a global health problem with psychosocial implications. Nigeria has the largest population of people with sickle cell disorder, with about 150,000 births annually. This study explored the psychosocial impact of... more

Sickle Cell Disorder is a global health problem with psychosocial implications. Nigeria has the largest population of people with sickle cell disorder, with about 150,000 births annually. This study explored the psychosocial impact of sickle cell disorder in 408 adolescents and adults attending three hospitals in Lagos, Nigeria. A questionnaire was designed for the study, with some of commonly described areas of psychosocial impact including general public perceptions and attitudes, education, employment, and healthcare issues, and emotional responses. The majority of participants thought that society in general had a negative image of SCD, and reported negative perceptions and attitudes. Some issues in education, employment, and healthcare were expressed, however these were in the minority of cases. The results also showed that depressive feelings were experienced in almost half the study population, even though feelings of anxiety or self-hate were uncommon. Clinical implications of these findings are considered.

This investigation examined the risk-resistance adaptation model for children with sickle cell disease and their primary caregivers. Participants were 55 children, ranging in age from 5 to 16 years with a mean age of 9 years 2 months,... more

This investigation examined the risk-resistance adaptation model for children with sickle cell disease and their primary caregivers. Participants were 55 children, ranging in age from 5 to 16 years with a mean age of 9 years 2 months, diagnosed with sickle cell disease and their primary caregivers, recruited from a university medical center. Measures included adjustment (i.e. primary caregiver and child adjustment), risk factors (i.e. disease and disability, functional independence, and psychosocial stressors), resistance factors (i.e. intrapersonal health locus of control, social-ecological), and stress processing (coping). Primary caregivers' adjustment was associated with developmental coping, change R2 : .08, and child adaptation was associated with an internal health locus of control, change R2 : .22. An indirect effect of primary caregivers ' coping on child adjustment was found through

Los recurrentes flujos inmigratorios existentes en los últimos años en España han elevado la prevalencia de diferentes hemoglobinopatías, estructurales y talasémicas, y del déficit de glucosa-6-fosfato deshidrogenasa (G6PD) en nuestra... more

Los recurrentes flujos inmigratorios existentes en los últimos años en España han elevado la prevalencia de diferentes hemoglobinopatías, estructurales y talasémicas, y del déficit de glucosa-6-fosfato deshidrogenasa (G6PD) en nuestra población 1-3 . Asimismo, la selección positiva ejercida por la malaria sobre estos defectos congénitos del eritrocito no sólo aumenta la probabilidad de encontrar en un mismo individuo más de un defecto genético, sino que conlleva una mayor heterogeneidad clínico-biológica y, con ello, mayores dificultades diagnósticas. La anemia falciforme puede presentar 3 genotipos fundamentales: a) homocigoto (β S /β S ), asociado a anemia falciforme grave; b) doble heterocigoto con otra hemoglobinopatía (β S /β C ), asociado a anemia falciforme moderada, y c) doble heterocigoto con betatalasemia (β S /β 0 ) y expresividad clínica similar al genotipo homocigoto. Existe también la posibilidad de que el gen β S se asocie con un gen alfatalasémico, en cuyo caso habría una modulación en el porcentaje relativo de la hemoglobina S 4 . Finalmente, la asociación a un déficit de G6PD puede producir una crisis hemolítica aguda, desencadenada por estrés oxidativo, en algún momento de la vida. En este último caso, la elevada heterogeneidad molecular del déficit de G6PD hace aún más interesante su estudio, ya que permite atribuir determinadas mutaciones a diferentes grupos étnicos y predecir la gravedad de una posible crisis hemolítica 5-9 . El cribado neonatal (CN) de la anemia falciforme a partir de sangre de cordón umbilical, obligatorio en algunos países de la Unión Europea como Gran Bretaña o Bélgica, permite la detección precoz de la enfermedad, aplicar medidas profilácticas y disminuir su mortalidad hasta un 2% de casos en comparación con el 8% que se observa si la profilaxis se realiza pasados los 3 primeros meses de vida 10,11 .

Sickle cell disorder (SCD) is a chronic illness that in England disproportionately affects marginalized ethnic groups, but has yet to feature extensively within educational or disability research. This review of existing literature makes... more

Sickle cell disorder (SCD) is a chronic illness that in England disproportionately affects marginalized ethnic groups, but has yet to feature extensively within educational or disability research. This review of existing literature makes the case for a sustained developmental research programme around SCD, disability and education. There are potentially life‐saving decisions that could be made by teachers in caring for

This paper reviews the effects of high altitude on brain function, focussing on neuropsychological outcome following acute exposure to high altitude hypoxia. Domains of sensor-perceptual and psycho-motor function are considered along... more

This paper reviews the effects of high altitude on brain function, focussing on neuropsychological outcome following acute exposure to high altitude hypoxia. Domains of sensor-perceptual and psycho-motor function are considered along performance on more complex cognitive tasks requiring memory and language. Conditions of pathological hypoxia including sickle cell disease and birth-related hypoxia are briefly discussed as models for the potential effect of high altitude residence on neuropsychological functioning. Currently, research on a potentially different neuropsychological profile of high altitude residents is lacking. The literature suggests a profile of generalised and mild neuropsychological impairment due to acute exposure to high altitude, but a number of limitations are identified. More research is needed to determine a potentially regular pattern of neuropsychological impairment. In particular, it is of interest to determine whether there is a pattern of residual neuropsychological impairment after descent from high altitude. Finally, effects of chronic hypoxia due to altitude are discussed. Available literature suggests a potential effect of hypoxia over white matter as an underlying factor accounting for the neuropsychological effects. There is lack of evidence in this area; however, conditions of pathological hypoxia suggest that further research efforts should be made.

Sickle cell disease (SCD) is the most common genetic disorder of the blood. The disease produces significantly abnormal hemoglobin (Hgb) molecules in red blood cells (RBCs). The sickling of RBCs occurs when partially or totally... more

Sickle cell disease (SCD) is the most common genetic disorder of the blood. The disease produces significantly abnormal hemoglobin (Hgb) molecules in red blood cells (RBCs). The sickling of RBCs occurs when partially or totally deoxygenated Hgb molecules distort their normal disk shape, producing stiff, sticky, sickle-shaped cells that obstruct small blood vessels and produce vasoocclusion as well as the disruption of oxygen to body tissues. Because tissue damage can occur at multiple foci, patients with SCD are at risk for other medical complications including, but not limited to, delayed growth and sexual maturation; acute and chronic pulmonary dysfunction; stroke; aseptic necrosis of the hip, shoulders, or both; sickle cell retinopathy; dermal ulcers; and severe chronic pain. The chronicity of the illness combined with frequent hospitalizations for pain and other medical management can contribute significantly to impaired psychosocial functioning, altered intra- and interpersonal relationships, and reduced quality of life. Unlike previous qualitative reviews of SCD, this article describes the relevant clinical and research data on the relation between psychosocial functioning and SCD in adult and child populations. The authors discuss the significant role of psychosocial issues in the trajectory and management of the disease and conclude that understanding the pathophysiology of SCD without thoroughly understanding the equally important psychosocial influences is misunderstanding SCD.

To determine the frequency of G6PD deficiency in young healthy adult males of some ethnic groups in Pakistan. Design: Descriptive study. Place and Duration of Study: Study performed in Combined Military Hospital, Attock in collaboration... more

To determine the frequency of G6PD deficiency in young healthy adult males of some ethnic groups in Pakistan. Design: Descriptive study. Place and Duration of Study: Study performed in Combined Military Hospital, Attock in collaboration with Armed Forces Institute of Pathology, Rawalpindi from October 2003 to January 2004. Patients and Methods: Asymptomatic and healthy adult males were included in the study. A brief clinical record including age, ethnic group, place of residence, and history of past illnesses including fever, episodes of recurrent jaundice were recorded. Met-hemoglobin reduction test for G6PD screening was performed. Hemoglobin, red cell indices and total leukocyte count of G6PD deficient cases were measured on Sysmex KX 32 hematology analyzer. Results: Three thousand adult males with age between 17 years to 23 years were screened. G6PD deficiency was detected in 1.8%. Deficiency state was 1.07% in Kashmiris, 1.47% in Punjabis, 2.77% in Sindhis, and 3.17% in Pathans. Past history of recurrent jaundice was present in 5.7%. Mild anemia was present in 3.8%. Conclusion: Frequency of G6PD deficiency was 1.8% in young healthy adults with insignificant difference among various ethnic groups except in Pathans.

The current study aims to compare positive and negative measures of psychosocial functioning among children with sickle cell disease (SCD) and their healthy siblings. Participants were 41 African-American children with SCD, 97 healthy... more

The current study aims to compare positive and negative measures of psychosocial functioning among children with sickle cell disease (SCD) and their healthy siblings. Participants were 41 African-American children with SCD, 97 healthy siblings, and their primary caregivers. Primary caregivers completed self-report questionnaires assessing child behavioral problems, while children with SCD and siblings completed self-report questionnaires assessing coping, self-efficacy, and perceived social support. No significant differences were noted between children with SCD and their siblings on all measures. Both groups reported self-efficacy and perceived social support within the normative range, and endorsed significantly greater use of Positive/Approach coping. In general, both groups of children do not have clinically significant behavioral problems. However, secondary exploratory analyses identified that a greater percentage of children from both groups scored above the established clinical cutoff on the behavioral summary scores. Number of visits to the emergency room was related to behavioral problems in children with SCD. While previous reports have been mixed in their findings that children with SCD are at greater risk for psychosocial and other behavioral problems, the current report finds that children with SCD and their healthy siblings endorse positive psychosocial functioning and as a group do not have clinically significant behavioral problems. Nonetheless, ongoing psychosocial evaluation for children receiving treatment for SCD is vital.

Objective. 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... more

Objective. 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. Design. 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. Conclusion. 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.

This is a short review of the well-known Yoruba film director and producer Tunde Kelani"s 2015 film on the excruciating disease of sickle cell anemia. The film follows the Nollywood pattern, highlighting the challenges faced by sufferers... more

This is a short review of the well-known Yoruba film director and producer Tunde Kelani"s 2015 film on the excruciating disease of sickle cell anemia. The film follows the Nollywood pattern, highlighting the challenges faced by sufferers and encouraging the public to take positive steps towards a better management of the situation.

Background: Sickle cell disease (SCD) is one of the most prevalent genetic disorders among the African descent. SCD is associated with intermittent excruciating pain, increased morbidity and mortality yet has received less recognition in... more

Background:
Sickle cell disease (SCD) is one of the most prevalent genetic disorders among the African descent. SCD is associated with intermittent excruciating pain, increased morbidity and mortality yet has received less recognition in the public domain. There is growing evidence on the need to increase awareness to reduce the disease incidence. This study aimed to elicit student’s knowledge, beliefs and attitude of SCD.
Method:
A descriptive cross-sectional study design was employed. A total of 380 university students at all levels were invited to participate in the study. Of these, 350 successfully completed the study (response rate, 92.10%). A
semi structured questionnaire was used to collect information on participant’s demographic characteristics, general knowledge of SCD, beliefs and attitudes of students towards SCD.
Results:
Almost all the students were aware of SCD (98.6%) with the main source of information being school (84.6%) and the media (12.6%). Knowledge level of respondents on SCD based on scores revealed a mean score
of 9.8 ± 4.2 with 45.1%, 47.8%, and 7.1% for poor, moderate and excellent respectively. Most of the respondents strongly agreed that they feel worried (52.9%) and sympathetic (51.4%) for people affected with SCD. Participants had the belief that it is an inherited disease acquired from parents (48.3%) but not a punishment from God (76.3%). Higher level of education and knowing a relative with sickle cell trait (SCT) or SCD was significantly associated with high knowledge of SCD (p<0.05).
Conclusion:
In general, there was a limited understanding and inadequate knowledge of SCD among the students particularly on the pattern of inheritance. Results from the study highlight the need for effective public health education on SCT/SCD in trusted sources such as schools, media (radio/Television), health centers and churches. This is necessary to address misconceptions and increase knowledge level as well as understanding of the risks of having a child with SCD to influence personal reproductive options.

Sickle cell disease is an autosomal recessive disorder of blood with defective RBCs that assume sickle shape, have short lifespan leading to vascular occlusion that can affect any organ in the body. It can show a variety of oral... more

Sickle cell disease is an autosomal recessive disorder of blood with defective RBCs that assume sickle shape, have short lifespan leading to vascular occlusion that can affect any organ in the body. It can show a variety of oral manifestations affecting the soft tissues and teeth. Dental pulp could show aseptic necrosis without any trauma or caries or restoration of the involved tooth. In this case report, we present a case of dento-alveolar abscess formation of the left mandibular molar in a patient with sickle cell disease. It had a sudden onset, the involved molar had only enamel caries and the lesion subsided with a course of antibiotics. Our patient also had enamel hypomineralization of maxillary incisors.

The scientific, medical, and diagnostic communities have been presented the most powerful tool for quantitative nucleic acids analysis: real-time PCR [Bustin, S.A., 2004. A-Z of Quantitative PCR. IUL Press, San Diego, CA]. This new... more

The scientific, medical, and diagnostic communities have been presented the most powerful tool for quantitative nucleic acids analysis: real-time PCR [Bustin, S.A., 2004. A-Z of Quantitative PCR. IUL Press, San Diego, CA]. This new technique is a refinement of the original Polymerase Chain Reaction (PCR) developed by Kary Mullis and coworkers in the mid 80:ies [Saiki, R.K., et al., 1985. Enzymatic amplification of b-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia, Science 230, 1350], for which Kary Mullis was awarded the 1993 year's Nobel prize in Chemistry. By (M. Kubista). www.elsevier.com/locate/mam Molecular Aspects of Medicine 27 (2006) 95-125

Sickle cell nephropathy is a major complication of sickle cell disease. It manifests in different forms, including glomeru-lopathy, proteinuria, hematuria, and tubular defects, and frequently results in end-stage renal disease (ESRD).... more

Sickle cell nephropathy is a major complication of sickle cell disease. It manifests in different forms, including glomeru-lopathy, proteinuria, hematuria, and tubular defects, and frequently results in end-stage renal disease (ESRD). Different pathophysiologic mechanisms have been proposed to explain the development of nephropathy in SCD, where hemolysis and vascular occlusion are the main contributors in the manifestations of this disease. Markers of renal injury, such as proteinuria and tubular dysfunction, have been associated with outcomes among patients with sickle cell nephropathy and provide means for early detection of nephropathy and screening prior to progression to renal failure. In small-sized clinical trials, hydroxyurea has demonstrated to be effective in slowing the progression to ESRD. Dialysis and renal transplantation represent the last resort for patients with sickle cell nephropathy. Nevertheless, despite the availability of diagnostic and therapeutic strategies, sickle cell nephropathy remains a challenging and under-recognized complication for patients with sickle cell disease.

Sierra Leone is thought to be one of the West African countries most affected by sickle cell disorders. Estimates state that one in four people carry the gene for sickle cell and between 1 to 2% of births are of children with the... more

Sierra Leone is thought to be one of the West African countries most affected by sickle cell disorders. Estimates state that one in four people carry the gene for sickle cell and between 1 to 2% of births are of children with the condition. Despite this, there has been a general public health and social neglect of the condition, so that prevalence is poorly understood and policy non-existent. This participatory qualitative research project, conducted in 2018 in two districts in the country, sought to understand both women’s experiences caring for children with the condition, as well as what the needs were of women who had the condition. The findings illustrated that a historical memory of the condition and its effects exists in the intergenerational memories and practices of people. This is important to learn from to combat stigmatisation of women and people who have the condition. However, past expertise and medical knowledge currently co-exist in isolation from each other, with access to proper healthcare unavailable in most parts of the country. This has led to an inability to get a correct medical diagnosis, no advice about how to live with the condition and an inability to access specialized medical and rehabilitative services. These failures in care have led to early deaths and disablement, with the result that the general public fear the condition. A neglect of reproductive justice and the relational implications for women with the condition was also apparent in the high number of deaths of women and infants with sickle cell. Lastly, due to the work of the voluntary and medical sector, there is increasing awareness in parents, schools and communities of how the total environment is crucial for holistic management of sickle cell conditions in a low- income country. However, it is women who are still mostly responsible for ensuring that their children access a better quality of life and women who still incur moral blame and shame for their ill-health and that of their children.

BEHAVIORAL HEALTH Behavioral: The diver's mental capacity and emotional makeup are important to safe diving. The student diver must have sufficient learning abilities to grasp information presented to him by his instructors, be able... more

BEHAVIORAL HEALTH Behavioral: The diver's mental capacity and emotional makeup are important to safe diving. The student diver must have sufficient learning abilities to grasp information presented to him by his instructors, be able to safely plan and execute his own dives and react to changes about him in the underwater environment. The student's motivation to learn scuba and his ability to deal with potentially dangerous situations is also crucial to safe diving.

It has been 100 years since Herrick published the first medical case report of sickle cell disease. In 1949, Pauling discovered hemoglobin S (HbS). As early as the 1960-70s, emerged a coherent detailed molecular-level description of... more

It has been 100 years since Herrick published the first medical case report of sickle cell disease. In 1949, Pauling discovered hemoglobin S (HbS). As early as the 1960-70s, emerged a coherent detailed molecular-level description of pathophysiology of sickle disease. It involved polymerization of deoxyhemoglobin S with formation of long fibers inside red blood cells (RBC) causing a distorted sickle shape and shortened lifespan. These changes constitute the basic disease process and account for hemolytic anemia and for obstructive events underlying vasoocclusive crises (VOC). However, they do not explain the mechanisms that trigger VOC. The purpose of this review is to present recent data on dehydration of sickle cell RBC, abnormalities in RBC adhesion to the vascular endothelium, the role of inflammatory events and of activation of all cells in the vessel, and abnormalities of vascular tone and carbon monoxide metabolism. These data provide new insight into the pathophysiology of the first molecular disease.

Pulmonary arterial hypertension (PAH), once considered a rare complication of sickle cell disease (SCD) and thalassemia, appears to be more common in adults with hemoglobinopathy than previously appreciated. On prospective screening of... more

Pulmonary arterial hypertension (PAH), once considered a rare complication of sickle cell disease (SCD) and thalassemia, appears to be more common in adults with hemoglobinopathy than previously appreciated. On prospective screening of adults with SCD, approximately one-third of adults are found on echocardiography to have a tricuspid regurgitant jet velocity (TRV) of 2.5 m/s or higher, many of whom are asymptomatic. Dyspnea on exertion is the most common presenting symptom. This TRV abnormality is a marker for approximately 40% 3-year mortality in adults, and it is associated with laboratory values suggestive of more severe intravascular hemolysis. Release of hemoglobin and arginase from lysed red cells causes scavenging of nitric oxide (NO) and catabolism of L-arginine, the obligate substrate for NO synthase. The resulting impairment in NO bioavailability is associated with pulmonary vasoconstriction, endothelial dysfunction, thrombosis, and eventual development of plexogenic arterial lesions, the histological hallmark of all forms of PAH. Undoubtedly, additional pathophysiological mechanisms will also play a role in its multifactorial pathogenesis. Early data from children with SCD indicate a similar prevalence of elevated TRV, but the prognostic implications of this remain to be established. Individual patient diagnosis of PAH requires confirmation by right heart catheterization studies and individualized management. Hemolysis-associated PAH with impairments in NO bioavailability is being identified in thalassemia and other hemolytic disorders, and may be a general consequence of long-standing, severe intravascular hemolytic anemia.

Dépistage néonatal de la Drépanocytose en France Pertinence d'une généralisation du dépistage à l'ensemble des nouveaux-nés A systematic newborn screening program for SCD has been established since 1985 in the French overseas... more

Rationale: Sickle cell disease results in significant morbidity and mortality attributable to pulmonary complications. The pattern of lung function change across childhood in sickle cell disease is not well delineated. Objectives: To... more

Rationale: Sickle cell disease results in significant morbidity and mortality attributable to pulmonary complications. The pattern of lung function change across childhood in sickle cell disease is not well delineated. Objectives: To determine if the pattern of lung function in sickle cell disease differs from race matched predicted values across childhood, to describe that pattern of change and to examine the effect of clinical covariates on lung function. Methods: Lung function measurements for children with sickle cell disease aged 8-18 years from a single centre were examined for inclusion. Mixed model analysis was used to retrospectively review lung function in these children in comparison with those predicted by race-matched reference equations. The contribution of age, gender, hemoglobin level, and beta-globin genotype on longitudinal changes in lung function was examined. Results: Children with sickle cell disease show significant decline in spirometric lung volumes across childhood which are concordant with the pattern of change in other measures of lung volume. The average decline for forced expired volume in 1 second

Parmi les hémoglobinopathies, deux types de pathologie sont à distinguer. Dans les anomalies de structure, une hémoglobine (Hb) « anormale » est présente, entraînant ou non des signes fonctionnels. L'HbS, responsable de la drépanocytose,... more

Parmi les hémoglobinopathies, deux types de pathologie sont à distinguer. Dans les anomalies de structure, une hémoglobine (Hb) « anormale » est présente, entraînant ou non des signes fonctionnels. L'HbS, responsable de la drépanocytose, y a une place prépondérante. Les anomalies de synthèse s'expriment dans le groupe très hétérogène des thalassémies. La fréquence des hémoglobinopathies en fait un réel problème de santé publique dans les foyers d'endémie et d'immigration. Les mécanismes physiopathologiques mis en cause sont, cependant, très différents. La drépanocytose, due à une mutation unique, se présente de façon très variable, majoritairement comme une maladie rhéologique, sa gravité s'étendant de formes létales dès l'enfance à d'autres relativement bien tolérées. Pour les thalassémies, l'anémie est au premier plan et tout aussi variable. Des mutations multiples n'expliquent que très partiellement l'hétérogénéité de présentation. Celle-ci, dans les deux cas, fait intervenir l'action de gènes modulateurs. Des avances physiopathologiques récentes ont démontré l'implication dans tous les cas de l'endothélium vasculaire, qui se situe au premier plan dans l'évolution d'une drépanocytose. D'autres modulations, multiples, sont progressivement mises en évidence qui modifient l'évolution des thalassémies. © 2005 Elsevier SAS. Tous droits réservés.

We analyzed the outcomes of 283 patients receiving unrelated donor allogeneic hematopoietic cell transplantation for non-Hodgkin lymphoma (NHL) facilitated by the Center for International Blood & Marrow Transplant Research /National... more

We analyzed the outcomes of 283 patients receiving unrelated donor allogeneic hematopoietic cell transplantation for non-Hodgkin lymphoma (NHL) facilitated by the Center for International Blood & Marrow Transplant Research /National Marrow Donor Program (CIBMTR/NMDP) between 1991 and 2004. All patients received myeloablative conditioning regimens. The median follow-up of survivors is 5 years. Seventy-three (26%) patients are alive. The day 100 probability of death from all causes is estimated at 39%. The cumulative incidence of developing grade III-IV acute graft-versus-host disease (GVHD) at day 100 is 25%. The estimated five-year survival and failure free survival are 24% (95% CI; 19-30) and 22% (95% CI; 17-28) respectively. Factors adversely associated with overall survival included increasing age, decreased performance status, and refractory disease. Follicular lymphoma and Peripheral T-cell lymphoma had improved survival compared to aggressive B-cell lymphomas. Factors adversely associated with progression free-survival included performance status, histology and disease status at transplant. Long-term failure-free survival is possible following unrelated donor transplantation for NHL, although early mortality was high in this large cohort.

In the last decade, the care of patients with sickle cell disease (SCD) has undergone important advances with better understanding of disease pathophysiology and improvement in standards of care, especially among paediatric patients.... more

In the last decade, the care of patients with sickle cell disease (SCD) has undergone important advances with better understanding of disease pathophysiology and improvement in standards of care, especially among paediatric patients. Although many new drugs are currently being investigated and are at different stages of development, the pace of drug discovery and utilization has been slow and suboptimal. Hydroxycarbamide (hydroxyurea) has been investigated and utilized for at least two decades. Hydroxycarbamide's efficacy has been demonstrated, albeit with different levels of evidence, in paediatric and adult populations, and yet clinician and patient acceptance and use have been far from ideal. In this review we discuss the current usage of hydroxycarbamide and its possible future indications in SCD, as well as the use of new compounds that have very different mechanisms of action, which may prove safe and efficacious when used alone or in combination in patients with SCD.

Ditularkan oleh seseorang atau hewan yang darahnya terdapat anak cacing filarial (mikrofilaria) kepada orang lain melalui gigitan nyamuk (Aedes sp, Anopheles sp. dll)

Abstract: The following is a case report of a patient suffering from sickle cell disease with ß Thalassemia. The patient has been under homeopathic treatment since 1984(30 years) during which she was followed up extensively and management... more

Abstract: The following is a case report of a patient suffering from sickle cell disease with ß Thalassemia. The patient has been under homeopathic treatment since 1984(30 years) during which she was followed up extensively and management of acute episodes of pains and infections was done with homeopathic approach along with the constitutional treatment. The pathogenesis of the clinical symptoms, the totality of the case, miasmatic aspect were all considered for finding out the indicated remedy at various phases of the illness. All the clinical details and investigations have been documented.