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1.
Pan Afr Med J ; 35: 1, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32117517

RESUMO

We report a case of sight threatening vitreous haemorrhage and retinal detachment as complication of sickle cell disease (SCD). A 35 years old female Nigerian patient had presented to ophthalmology clinic of Princess Marina Hospital, Botswana, with two weeks history of poor vision in the left eye. The loss of vision was due to vitreous haemorrhage and retinal detachment which was confirmed by direct and indirect ophthalmoscopy and B-Scan ultrasound. Prior to presentation, patient didn't have any follow up by an ophthalmologist as part of regular medical care for patients with SCD. We emphasize the importance of regular follow up for early detection, treatment and prevention of complication associated with sickle cell disease.


Assuntos
Anemia Falciforme/complicações , Descolamento Retiniano/diagnóstico , Hemorragia Vítrea/diagnóstico , Adulto , Feminino , Humanos , Oftalmoscopia , Descolamento Retiniano/etiologia , Ultrassonografia , Transtornos da Visão/diagnóstico , Transtornos da Visão/etiologia , Hemorragia Vítrea/etiologia
2.
Rev Med Liege ; 75(2): 115-120, 2020 Feb.
Artigo em Francês | MEDLINE | ID: mdl-32030937

RESUMO

Sickle cell disease and systemic lupus erythematosus (SLE) are two distinct chronic conditions sharing many clinical manifestations. Coexisting of these two diseases is rare, but it is important to make the diagnosis of SLE in sickle cell patients to initiate appropriate treatment and limit the risk of complications. High titers of autoantibodies have been reported in sickle cell patients as well as a higher risk of immune deficiency. These patients present a defective activation of the alternative pathway of the complement that increases the risk of infection with encapsulated bacteria and a difficulty in eliminating antigenes that could predispose to autoimmune diseases. We report three case of children with sickle cell disease. They developed symptoms initially attributed to sickle cell disease, but after investigations revealed an underlying SLE.


Assuntos
Anemia Falciforme , Lúpus Eritematoso Sistêmico , Anemia Falciforme/complicações , Doenças Autoimunes , Criança , Humanos , Lúpus Eritematoso Sistêmico/complicações
4.
West Afr J Med ; 37(1): 32-39, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32030709

RESUMO

BACKGROUND: Priapism is a prolonged, painful penile erection common among males with Sickle Cell Disease (MWSCD) predisposing to erectile dysfunction (ED) when treatment is delayed. Unlike in women with sickle cell disease (SCD), there has been little attention to male reproductive health complications of SCD. OBJECTIVE: To investigate knowledge, experiences and coping mechanisms for priapism among MWSCD in Ibadan, Nigeria. METHODS: This descriptive cross-sectional study employed purposive sampling technique to select 95 consenting MWSCD attending haematology clinics in Ibadan for interview. A semi-structured, interviewer-administered questionnaire was used to collect information on knowledge, coping mechanisms, and experiences of priapism. Knowledge of priapism was measured and categorised as poor and good respectively. Psychosocial Experiences (PEs) were measured and categorised as mild, moderate and severe, while the Sexual Experiences (SEs) were recorded. Coping mechanisms for priapism were grouped into Medical, Psychosocial and Harmful coping mechanisms respectively. Data were analysed using descriptive statistics and Fishers' Exact test at p<0.05. RESULTS: Respondents' mean age was 23.6±8.8 years. Over half (55.8%) had good knowledge of priapism. Thirty-nine respondents (41.1%) had experienced priapism. Sexual Experiences reported include: total ED 10.3% and apathy for sexual intercourse 23.1%. Majority 30(76.9%) developed mild PEs especially fear of reoccurrence of priapism (56.4%) and sleeplessness (43.6%). The most used Medical Coping Mechanism (MCM) was cold shower (46.2%). There was no significant association between age and knowledge of priapism. CONCLUSION: Knowledge of priapism among respondents was good. Psychosocial therapy through appropriate health education, counseling and social support may help improve knowledge among people with SCD.


Assuntos
Adaptação Psicológica , Anemia Falciforme/complicações , Conhecimentos, Atitudes e Prática em Saúde , Priapismo/etiologia , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Nigéria , Priapismo/psicologia , Adulto Jovem
5.
Medicine (Baltimore) ; 99(3): e18783, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32011473

RESUMO

RATIONALE: Primary melanin-producing tumors are rare extra-axial neoplasms OPEN of the central nervous system. In the literature, few case reports have discussed neoplasms involving the cavernous sinus; of these, only 4 have reported on neoplasms originating in Meckel cave. The diagnostic approach, including clinical and radiological analysis, is challenging, and cytopathological assessment with a molecular basis is the best approach to discriminate between these lesions. Herein, we discuss the pathophysiology, diagnostic approach, intraoperative features, and postoperative management in a unique case of primary pigmented meningeal melanocytoma originating in Meckel cave in a patient who was diagnosed with Carney complex (CCx) and sickle cell disease (SCD). PATIENT CONCERNS: A 23-year-old man diagnosed with SCD had also been diagnosed previously with CCx, without any familial history or neurocutaneous melanosis. He had experienced headaches accompanied by left facial pain and paresthesia for 2 months. DIAGNOSIS: The initial computed tomography scan and magnetic resonance imaging (MRI) revealed a mass arising from the left Meckel cave. On MRI, it followed the signal intensity of melanin. He underwent subtotal resection of the mass. Considering the patient's history of CCx, melanocytic schwannoma was the most relevant diagnosis. A postoperative histopathological examination was suggestive of benign pigmented meningeal melanocytoma. INTERVENTIONS: The patient underwent an uneventful subtotal resection of the mass through a left temporal linear incision. OUTCOMES: The patient showed progressive improvement of neurologic deficits, and after 2 years of follow-up, he did not present with any new complaints. LESSONS: To the best of our knowledge, this is the first report of the unusual presentation of both SCD, as well as of primary pigmented meningeal melanocytoma in a patient with CCx. Complete surgical resection can be curative in most cases of melanocytoma. The presence of CCx with SCD suggests potential shared genetic contributions that will require further exploration.


Assuntos
Complexo de Carney/complicações , Melanoma/complicações , Melanoma/diagnóstico , Neoplasias Meníngeas/complicações , Neoplasias Meníngeas/diagnóstico , Anemia Falciforme/complicações , Diagnóstico Diferencial , Humanos , Masculino , Melanoma/patologia , Melanoma/cirurgia , Neoplasias Meníngeas/patologia , Neoplasias Meníngeas/cirurgia , Base do Crânio , Adulto Jovem
6.
Medicine (Baltimore) ; 98(51): e18225, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31860969

RESUMO

BACKGROUND: Chronic blood transfusions are standard of care for stroke prevention in sickle cell disease but is not cost effective and not without risks. Hydroxyurea has emerged as an option in the prevention of silent stroke in sickle cell disease. OBJECTIVE: To evaluate the role of hydroxyurea in preventing silent strokes in a systematic review by adhering to the Cochrane guidelines. METHODS: PubMed, EMBASE, Web of Science Core Collection, and Cochrane Central Register of Controlled Trials were searched for the related articles. Eligibility criteria included randomized controlled trials (RCTs) comparing the use of hydroxyurea vs blood transfusions and observational studies evaluating the role of hydroxyurea to prevent stroke and silent stroke in patients with sickle cell anemia or sickle cell ß thalassemia. The meta-analysis was conducted using STATA software version 13. RESULTS: We included 10 single arm observational studies with 361 participants, and one RCT study with 60 participants receiving hydroxyurea, respectively. There were no deaths attributed to hydroxyurea. The results revealed that 1% (95% CIs 0.0 to 0.05) of patients receiving hydroxyurea had stroke. 18% (95% CIs 0.03 to 0.4) of the hydroxyurea patients had silent stroke. 24% (95% CIs 0.02 to 0.57) of the hydroxyurea patients had adverse events attributed to hydroxyurea. CONCLUSION: Our findings suggest that hydroxyurea is safe and may prevent silent stroke and stroke in sickle cell disease. More high-quality studies including RCTs are needed.


Assuntos
Anemia Falciforme/complicações , Antidrepanocíticos/uso terapêutico , Hidroxiureia/uso terapêutico , Acidente Vascular Cerebral/prevenção & controle , Anemia Falciforme/tratamento farmacológico , Transfusão de Sangue , Humanos , Acidente Vascular Cerebral/etiologia
7.
Cochrane Database Syst Rev ; 2019(11)2019 11 04.
Artigo em Inglês | MEDLINE | ID: mdl-31681984

RESUMO

BACKGROUND: Malaria is the most common precipitating cause of crises in sickle cell disease in malaria-endemic countries. Health professionals often recommend life-long malaria chemoprophylaxis for people with sickle cell disease living in these areas. It is therefore important we have good evidence of benefit. OBJECTIVES: To assess the effects of routine malaria chemoprophylaxis in people with sickle cell disease. SEARCH METHODS: We searched the Cochrane Infectious Diseases Group Specialized Register (January 2006), Cochrane Cystic Fibrosis and Genetic Disorders Group Specialized Register (July 2006), CENTRAL (The Cochrane Library 2006, Issue 1), MEDLINE (1966 to January 2006), EMBASE (1974 to January 2006), LILACS (1982 to January 2006), and reference lists. We also contacted organizations and pharmaceutical companies. SELECTION CRITERIA: Randomized and quasi-randomized controlled trials comparing chemoprophylaxis with any antimalarial drug given for a minimum of three months compared with a placebo or no intervention. DATA COLLECTION AND ANALYSIS: Two authors independently applied the inclusion criteria, assessed the risk of bias in the trials, and extracted data. Dichotomous data were analysed using risk ratios (RR) and presented with 95% confidence intervals (CI). MAIN RESULTS: Two trials with a total of 223 children with homozygous sickle cell disease met the inclusion criteria. A randomized controlled trial in Nigeria compared two different antimalarial drugs with a placebo, and reported that chemoprophylaxis reduced sickle cell crises (RR 0.17, 95% CI 0.04 to 0.83; 97 children), hospital admissions (RR 0.27, 95% CI 0.12 to 0.63; 97 participants), and blood transfusions (RR 0.16, 95% CI 0.05 to 0.56; 97 participants). A quasi-randomized controlled trial of 126 children in Uganda compared an antimalarial drug plus antibiotics with no antimalarial plus placebo. Chemoprophylaxis reduced the number of episodes of malaria and dactylitis, and increased mean haemoglobin values in this trial. AUTHORS' CONCLUSIONS: It is beneficial to give routine malaria chemoprophylaxis in sickle cell disease in areas where malaria is endemic. 4 November 2019 Update pending New contributors needed The CIDG Editors are looking for contributors to update and maintain this Cochrane Review. Contact the CIDG Managing Editor for further information.


Assuntos
Anemia Falciforme/complicações , Antimaláricos/uso terapêutico , Malária/prevenção & controle , Quimioprevenção , Criança , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto
8.
Cochrane Database Syst Rev ; 2019(10)2019 10 25.
Artigo em Inglês | MEDLINE | ID: mdl-31684693

RESUMO

BACKGROUND: Sickle cell disease is a genetic haemoglobin disorder, which can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Sickle cell disease is one of the most common severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. The two most common chronic chest complications due to sickle cell disease are pulmonary hypertension and chronic sickle lung disease. These complications can lead to morbidity (such as reduced exercise tolerance) and increased mortality. This is an update of a Cochrane Review first published in 2011 and updated in 2014 and 2016. OBJECTIVES: We wanted to determine whether trials involving people with sickle cell disease that compare regular long-term blood transfusion regimens with standard care, hydroxycarbamide (hydroxyurea) any other drug treatment show differences in the following: mortality associated with chronic chest complications; severity of established chronic chest complications; development and progression of chronic chest complications; serious adverse events. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Haemoglobinopathies Trials Register. Date of the last search: 19 September 2019. We also searched for randomised controlled trials in the Cochrane Central Register of Controlled Trials (CENTRAL) (the Cochrane Library, Issue 10, 14 November 2018), MEDLINE (from 1946), Embase (from 1974), CINAHL (from 1937), the Transfusion Evidence Library (from 1950), and ongoing trial databases to 14 November 2018. SELECTION CRITERIA: We included randomised controlled trials of people of any age with one of four common sickle cell disease genotypes, i.e. Hb SS, Sߺ, SC, or Sß+ that compared regular red blood cell transfusion regimens (either simple or exchange transfusions) to hydroxycarbamide, any other drug treatment, or to standard care that were aimed at reducing the development or progression of chronic chest complications (chronic sickle lung and pulmonary hypertension). DATA COLLECTION AND ANALYSIS: We used the standard methodological procedures expected by Cochrane. MAIN RESULTS: No studies matching the selection criteria were found. AUTHORS' CONCLUSIONS: There is a need for randomised controlled trials looking at the role of long-term transfusion therapy in pulmonary hypertension and chronic sickle lung disease. Due to the chronic nature of the conditions, such trials should aim to use a combination of objective and subjective measures to assess participants repeatedly before and after the intervention.


Assuntos
Síndrome Torácica Aguda/terapia , Anemia Falciforme/complicações , Transfusão de Eritrócitos/métodos , Hipertensão Pulmonar/terapia , Síndrome Torácica Aguda/etiologia , Antidrepanocíticos/uso terapêutico , Humanos , Hipertensão Pulmonar/etiologia , Ensaios Clínicos Controlados Aleatórios como Assunto
9.
Pan Afr Med J ; 33: 253, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31692839

RESUMO

Introduction: sickle cell disease is a genetic disease with autosomal inheritance associated with haemoglobin structure abnormality which causes the formation of hemoglobin S. The purpose of our study was to collect data on digestive diseases in patients with sickle cell disease in Lubumbashi and to highlight their epidemiological and clinical features. Methods: We conducted a retrospective, descriptive, cross-sectional study at the Research Center for Sickle Cell Disease in Lubumbashi. All the records of patients on follow-up for sickle cell disease with digestive disease during our 3-year period (January 2015 to December 2017) were analyzed. Data were collected using a survey taking into account different study parameters including: age, sex, the reason for consultation, diagnosis, the type of vaso-occlusive crisis, the paraclinical examinations made, hydroxyurea treatment. Results: out of a total of 403 medical records examined we found 206 cases (n=206) of sickle cell disease associated with digestive disease, accounting for a rate of 51,11% of patients with sickle cell disease who suffered from digestive diseases. Both sexes were represented with a slight female predominance (51.94%) and a sex ratio M/F of 0.92. The most represented age ranges 1-6 years (32.52%), the average age was 11.8 years; the standard deviation was 21.9; the extreme ages were 13 months and 38 years. The reason for consultation was dominated by fever (60,67%), abdominal pain (44.66%) and digestive disorders (30,09%). Vaso-occlusive abdominal crises were found in 65 patients (31.55%) among whom 36 had only 1 crisis, 24 had 2 crises and 5 had 3 crises. Intestinal diseases were found in 121 patients (69,41%) dominated by intestinal parasites (found in 58 patients whose collection of stool samples showed 4 parasites: Yersinia enterocolitis, Entamoeba histolytica, Giardia intestinalis and Clostridium difficile). Gastric diseases were found in 105 patients ( 50,97%) divided into peptic ulcer (45 patients) and gastritis (60 patients); biliary vesicular disease was found in 40 patients (19.41%) including vesicular lithiasis without cholecystitis (32 patients), lithiasic cholecystitis (5 patients) and lithiasis in the main biliary tract (3 cases); there was 1 single case diagnosed with acute pancreatitis. The most common associated diseases in our study were respiratory diseases (169 cases;82,03%), oto-rhino-laryngological diseases (157 cases;76.21%), bony, vaso-occlusive crises (146 cases; 70,87%), urogenital diseases (64 cases; 31.06%) and malaria (51 patients; 24.75%). Hepatic diseases and diseases of the spleen were found in 18 cases (8.73%) and 47 cases (22,81%) respectively. Ultrasound was requested in 79 patients but only 31 of them underwent it because of the lack of financial means (it costs 20 U.S. dollars). In the case of clinically obvious splenomegaly, the search for Howell-Jolly bodies was requested in 23 patients but it was only performed in 2 patients because it costs 10 U.S. dollars). Routine blood count, hemoglobin, hematocrit, inflammatory assessment and thick drop examination were performed in all our patients but liver assessment, tests done on stool samples, urine test were recommended based on patient's complaint. Out of 206 patients, only 60 were under hydroxyurea treatment (29,16%). Conclusion: digestive diseases are common in patients with sickle cell disease and account for almost half of patients with diagnosed sickle cell disease. Unfortunately, best management is limited by poverty leading to less very useful paraclinical examinations in patients with digestive diseases resulting from sickle cell disease.


Assuntos
Anemia Falciforme/complicações , Doenças do Sistema Digestório/epidemiologia , Hidroxiureia/uso terapêutico , Dor Abdominal/epidemiologia , Dor Abdominal/etiologia , Adolescente , Adulto , Anemia Falciforme/tratamento farmacológico , Criança , Pré-Escolar , Estudos Transversais , República Democrática do Congo/epidemiologia , Doenças do Sistema Digestório/etiologia , Doenças do Sistema Digestório/fisiopatologia , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Esplenomegalia/epidemiologia , Esplenomegalia/etiologia , Adulto Jovem
10.
BMC Health Serv Res ; 19(1): 876, 2019 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-31752858

RESUMO

BACKGROUND: Young people's experiences of healthcare as they move into adult services can have a major impact on their health, and the transition period for young people with sickle cell disease (SCD) needs improvement. In this study, we explore how young people with SCD experience healthcare during this period of transition. METHODS: We conducted a co-produced longitudinal qualitative study, including 80 interviews in 2016-2017 with young people with SCD aged 13-21 (mean age 16.6) across two cities in England. We recruited 48 participants (30 female, 18 male): 27 interviews were one-off, and 53 were repeated 2-3 times over approximately 18 months. We used an inductive analytical approach, combining elements of Grounded Theory and thematic analysis. RESULTS: Participants reported significant problems with the care they received in A&E during painful episodes, and in hospital wards as inpatients during unplanned healthcare. They experienced delays in being given pain relief and their basic care needs were not always met. Participants said that non-specialist healthcare staff did not seem to know enough about SCD and when they tried to work with staff to improve care, staff often seemed not prepared to listen to them or act on what they said. Participants said they felt out of place in adult wards and uncomfortable with the differences in adult compared with paediatric wards. Because of their experiences, they tried to avoid being admitted to hospital, attempting to manage their painful episodes at home and accessing unplanned hospital care only as a last resort. By contrast, they did not report having problems within SCD specialist services during planned, routine care. CONCLUSIONS: Our study underscores the need for improvements to make services youth-friendly and youth-responsive, including training staff in SCD-specific care, compassionate care and communication skills that will help them elicit and act on young people's voices to ensure they are involved in shaping their own healthcare. If young people are prevented from using transition skills (self-management, self-advocacy), or treated by staff who they worry do not have enough medical competency in their condition, they may well lose their trust in services, potentially compromising their own health.


Assuntos
Anemia Falciforme/terapia , Serviços Médicos de Emergência/normas , Manejo da Dor/normas , Qualidade da Assistência à Saúde , Transição para Assistência do Adulto , Adolescente , Anemia Falciforme/complicações , Empatia , Inglaterra , Feminino , Hospitalização , Humanos , Entrevistas como Assunto , Estudos Longitudinais , Masculino , Dor/etiologia , Relações Profissional-Paciente , Pesquisa Qualitativa , Transição para Assistência do Adulto/normas , Adulto Jovem
11.
Afr J Reprod Health ; 23(3): 42-48, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31782630

RESUMO

Sickle cell disease (SCD) is a chronic genetic hematological disorder with multiorgan involvement and is associated with complications during the pregnancy. This is a well-known disorder in Saudi Arabia, but no study has reported its outcomes in pregnant Saudi females of the Eastern region. This study was carried out to compare the fetomaternal outcome in patients with SCD with those without SCD. This was a retrospective cohort study done in the Eastern Province of Saudi Arabia in a tertiary care, teaching hospital, by retrieving the data through the code ICD-9 for SCD, the control group was also selected with comparable characteristics. A total of 302 SCD pregnant patients were included for comparison with 600 pregnant women without SCD as control, during the period of Jan 1, 2008 to December 31, 2018. After the data retrieval, percentages of complications were calculated between the study and control groups. Fischer's exact test and t-test were used for statistical analysis by using SPSS version 22. The results showed higher complication rates in pregnancies of patients with SCD. Hypertensive disorders (13.3%), abruptio placenta (1.6%), intrauterine growth restriction (19.2%), thromboembolism (6.6%) and stroke (2.6%) were all higher in SCD as compared to the control group .The complications of SCD itself including anemia (89.4%), acute chest syndrome (13.2%) and sickle cell crisis (39.2%) were also increased during the pregnancy. Both still birth (3.3%) and neonatal intensive care unit admission (1.6%) were also higher in SCD. SCD during the pregnancy is a high-risk situation and can lead to many fetomaternal complications; however, preconceptional counselling, early booking, a careful monitoring during pregnancy and multidisciplinary management approach can prevent potential adverse outcome in this regard.


Assuntos
Anemia Falciforme/complicações , Anemia Falciforme/fisiopatologia , Complicações Hematológicas na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Adolescente , Adulto , Anemia Falciforme/epidemiologia , Estudos de Casos e Controles , Feminino , Hospitais Universitários , Humanos , Hipertensão Induzida pela Gravidez , Gravidez , Complicações Hematológicas na Gravidez/etnologia , Estudos Retrospectivos , Arábia Saudita/epidemiologia , Natimorto/epidemiologia , Natimorto/etnologia , Tromboembolia/epidemiologia , Resultado do Tratamento , Adulto Jovem
12.
Gen Dent ; 67(6): 40-44, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31658023

RESUMO

Sickle cell disease (SCD) is a relatively common genetic disorder. Patients diagnosed with SCD may encounter barriers to dental care. Consequently, dental care providers should update their knowledge regarding the management of patients with SCD to reduce the possibility of triggering sickling events and potential damage to the body. The purpose of this article is to discuss the oral and dental management of patients with SCD and to clarify the risk factors that can lead to the sickling of the red blood cells during dental care. Adherence to clinical guidelines for preventive dentistry, effective pain and anxiety control, and stress reduction is crucial. Conscious sedation techniques, such as inhalation sedation with nitrous oxide and oxygen, can help to reduce episodes of stress and the potential for sickling. For patients with SCD, intravenous sedation should be provided only in a secondary care setting by a suitably experienced specialist in dental sedation.


Assuntos
Anemia Falciforme , Anestesia Dentária , Anestésicos Inalatórios , Anemia Falciforme/complicações , Sedação Consciente , Assistência Odontológica , Odontólogos , Humanos , Óxido Nitroso
14.
Ann Hematol ; 98(12): 2653-2660, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31641850

RESUMO

Sickle cell disease (SCD) is a hereditary condition characterized by homozygosis of the hemoglobin S (HbS) gene. Marked morbimortality is observed due to chronic hemolysis, endothelial injury, and episodes of vaso-occlusion, which leads to multi-organ damage. Renal impairment is common and may have different presentations, such as deficiency in urinary acidification or concentration, glomerulopathies, proteinuria, and hematuria, frequently resulting in end-stage renal disease (ESRD). Novel biomarkers of renal function, such as kidney injury molecule 1 (KIM-1), and neutrophil gelatinase-associated lipocalin (NGAL) and monocyte chemoattractant protein 1 (MCP-1) are being studied in order to enable early diagnosis of kidney damage in SCD.


Assuntos
Anemia Falciforme/urina , Quimiocina CCL2/urina , Receptor Celular 1 do Vírus da Hepatite A/metabolismo , Falência Renal Crônica/urina , Rim/metabolismo , Lipocalina-2/urina , Anemia Falciforme/complicações , Biomarcadores/urina , Humanos , Falência Renal Crônica/etiologia
15.
BMC Med Genet ; 20(1): 160, 2019 10 16.
Artigo em Inglês | MEDLINE | ID: mdl-31619193

RESUMO

BACKGROUND: (TA) n repeat sequence (rs8175347) of UGT1A1 gene promoter polymorphism is associated with serum bilirubin levels and gallstones among different sickle cell anaemia (SCA) populations. There are no data on UGT1A1 polymorphisms and their impact on Nigerian SCA patients. In this study, we determined the distribution of the UGT1A1 (TA) n genotypes among a group of young Nigerian SCA patients and healthy controls. In addition, the influence of UGT1A1 (TA) n genotypes on the laboratory and clinical events among the patients was determined. METHODS: The distribution of the UGT1A1 (TA) n genotypes among 101 young Nigerian SCA patients and 64 normal appropriate controls were determined and studied. The UGT1A1 (TA) n genotypes were further classified into subgroups and used to differentiate the clinical events and laboratory parameters of the patients. RESULTS: Four (TA) n alleles:(TA)5, 6, 7, and 8 were found. These were associated with 10 genotypes: TA5/5, 5/6, 5/7, 5/8, 6/6, 6/7, 6/8, 7/7, 7/8, 8/8. The normal (wild-type)-(TA) 6/6), low- (TA) 7/7, 7/8, 8/8), intermediate- (TA) 5/7, 5/8, 6/7, 6/8), and high-activity (TA) 5/5, 5/6,) genotypes were found in 24.8, 24.8, 41.5, and 8.9% patients and 20.3, 15.6, 61, and 3.1% controls respectively. The general genotype distribution of the patients and control group were not significantly different. There were significant differences in serum bilirubin and lactate dehydrogenase (LDH) of the patients when differentiated by the UGT1A1 (TA) n genotypes (p<0.05). Asymptomatic gallstones were found in 5.9% of patients and were significantly of the low-activity genotypes sub-group 5 (20%) vs 1(1.3%) p = 0.0033. Although, bilirubin and fetal hemoglobin (HbF) of patients with gallstones were significantly different from those without gallstone, only the serum bilirubin was associated with UGT1A1 (TA) n genotypes on multivariate analysis (p < 0.0001). CONCLUSION: This study highlights the contribution of UGT1A1 polymorphisms, a non-globin genetic factor, to the laboratory and clinical manifestations of young Nigerian SCA patients for the first time. It also shows that children with co-inheritance of low UGT1A1 (TA) n affinity genotypes may be at risk of gallstone, hence the need to follow them up.


Assuntos
Anemia Falciforme/genética , Glucuronosiltransferase/genética , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Adolescente , Anemia Falciforme/complicações , Estudos de Casos e Controles , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Cálculos Biliares/complicações , Cálculos Biliares/genética , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Nigéria , Adulto Jovem
16.
Public Health Rep ; 134(6): 599-607, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31600481

RESUMO

Sickle cell disease (SCD) is an inherited blood disorder most common among African American and Hispanic American persons. The disease can cause substantial, long-term, and costly health problems, including infections, stroke, and kidney failure, many of which can reduce life expectancy. Disparities in receiving health care among African Americans and other racial/ethnic minority groups in the United States are well known and directly related to poor outcomes associated with SCD. As an orphan disease-one that affects <200 000 persons nationwide-SCD does not receive the research funding and pharmaceutical investment directed to other orphan diseases. For example, cystic fibrosis affects fewer than half the number of persons but receives 3.5 times the funding from the National Institutes of Health and 440 times the funding from national foundations. In this review, we discuss the health inequities affecting persons with SCD, describe programs intended to improve their care, and identify actions that could be taken to further reduce these inequities, improve care, control treatment costs, and ease the burden of disease.


Assuntos
Afro-Americanos/estatística & dados numéricos , Anemia Falciforme/complicações , Anemia Falciforme/terapia , Acesso aos Serviços de Saúde , Disparidades em Assistência à Saúde/etnologia , Hispano-Americanos/estatística & dados numéricos , Anemia Falciforme/etnologia , Custos de Cuidados de Saúde , Humanos , Cobertura do Seguro/estatística & dados numéricos , Estados Unidos
17.
Pediatr Cardiol ; 40(8): 1670-1678, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31542803

RESUMO

Although elevated right ventricular pressure and left ventricular diastolic dysfunction measured by echocardiogram are independent predictors of death in adults with sickle cell disease (SCD), the utility of routine echocardiographic screening in the pediatric population is controversial. We performed a 3-year retrospective review of children ≥ 10 years of age with SCD who underwent an outpatient transthoracic echocardiogram as part of a screening program. Of 172 patients referred for screening, 105 (61%) had a measurable tricuspid regurgitation jet velocity (TRV): median 2.4 m/s (IQR 2.3-2.5). Elevated right ventricular (RV) pressure (TRV ≥ 2.5 m/s, 25 mmHg), documented in 30% (32/105), was significantly associated with chronic transfusion therapy and elevated lactate dehydrogenase. Left ventricle (LV) dilation, documented in 25% (44/172), was significantly associated with lower hemoglobin, and higher reticulocyte count, lactate dehydrogenase level, and bilirubin level. There was no association between elevated right ventricular pressure or left ventricle dilation and indices of biventricular systolic or diastolic function. The one death in the cohort during the study period had normal echocardiographic findings. In conclusion, mild RV pressure elevation and LV dilation in children with SCD is associated with abnormal laboratory markers of disease severity, but not with ventricular dysfunction over the 3-year study period.


Assuntos
Anemia Falciforme/fisiopatologia , Função Ventricular Esquerda/fisiologia , Função Ventricular Direita/fisiologia , Adolescente , Anemia Falciforme/complicações , Criança , Progressão da Doença , Ecocardiografia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Medição de Risco
18.
Middle East Afr J Ophthalmol ; 26(2): 89-94, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31543666

RESUMO

AIM: This study aims to assess the level of awareness about the effect of sickle cell disease (SCD) on the eye and vision and factors influencing SCD awareness. SUBJECTS AND METHODS: The study design was cross-sectional and was carried out in 2018 among the general population in the Eastern province of Saudi Arabia. It was conducted using an online, validated questionnaire, after obtaining consent from the participants. The outcome variable was 557. The level of awareness was correlated to demographic information. RESULTS: The study population was 557 Saudi adults. 84 were male and 473 female. Their mean age was 22 ± 23 years. Majority of the participants (57.3%) were not aware that SCD could affect the eye and vision. There was no difference in the knowledge regarding ocular complications of SCD among different ages and sexes. CONCLUSIONS: The result of this study indicates the need for raising the knowledge regarding the disease, its ocular complications, screening methods, and management. Health educations campaigns would be an effective tool in increasing SCD awareness.


Assuntos
Anemia Falciforme/complicações , Conhecimentos, Atitudes e Prática em Saúde , Doenças Retinianas , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Retinianas/diagnóstico , Doenças Retinianas/etiologia , Doenças Retinianas/terapia , Reologia , Arábia Saudita/epidemiologia , Inquéritos e Questionários , Adulto Jovem
20.
Ann Hematol ; 98(12): 2673-2681, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31478061

RESUMO

Sickle cell anemia (SCA) is an autosomal recessive monogenic disease with significant clinical variability. Cerebrovascular disease, particularly ischemic stroke, is one of the most severe complications of SCA in children. This study aimed to investigate the influence of genetic variants on the levels of fetal hemoglobin (Hb F) and biochemical parameters related with chronic hemolysis, as well as on ischemic stroke risk, in ninety-one unrelated SCA patients, children of sub-Saharan progenitors. Our results show that a higher Hb F level has an inverse relationship with the occurrence of stroke, since the group of patients who suffered stroke presents a significantly lower mean Hb F level (5.34 ± 4.57% versus 9.36 ± 6.48%; p = 0.024). Furthermore, the co-inheritance of alpha-thalassemia improves the chronic hemolytic pattern, evidenced by a decreased reticulocyte count (8.61 ± 3.58% versus 12.85 ± 4.71%; p < 0.001). In addition, our findings have confirmed the importance of HBG2 and BCL11A loci in the regulation of Hb F expression in sub-Saharan African SCA patients, as rs7482144_A, rs11886868_C, and rs4671393_A alleles are significantly associated with a considerable increase in Hb F levels (p = 0.019, p = 0.026, and p = 0.028, respectively). Concerning KLF1, twelve different variants were identified, two of them novel. Seventy-three patients (80.2%) presented at least one variant in this gene. However, no correlation was observed between the presence of these variants and Hb F level, severity of hemolysis, or stroke occurrence, which is consistent with their in silico-predicted minor functional consequences. Thus, we conclude that the prevalence of functional KLF1 variants in a sub-Saharan African background does not seem to be relevant to SCA clinical modulation.


Assuntos
Grupo com Ancestrais do Continente Africano , Anemia Falciforme , Isquemia Encefálica , Hemoglobina Fetal , Regulação da Expressão Gênica , Acidente Vascular Cerebral , Adolescente , Anemia Falciforme/complicações , Anemia Falciforme/etnologia , Anemia Falciforme/genética , Anemia Falciforme/metabolismo , Isquemia Encefálica/etnologia , Isquemia Encefálica/etiologia , Isquemia Encefálica/genética , Isquemia Encefálica/metabolismo , Criança , Pré-Escolar , Feminino , Hemoglobina Fetal/biossíntese , Hemoglobina Fetal/genética , Loci Gênicos , Humanos , Masculino , Acidente Vascular Cerebral/etnologia , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/genética , Acidente Vascular Cerebral/metabolismo
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