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1.
Sci Rep ; 14(1): 8584, 2024 04 13.
Artigo em Inglês | MEDLINE | ID: mdl-38615021

RESUMO

Sickle cell disease (SCD) is a major public health burden worldwide with increasing morbidity and mortality. The study evaluates the risk factors associated with mortality in SCD patients, between the years 2006 and 2020 at three hospitals in Oman. The analysis includes clinical manifestations, haematological, biochemical, and radiological parameters, use of antibiotics, and blood and exchange transfusions. Our cohort included 123 patients (82 males, 41 females), with a median age of 27 (Interquartile Range 21-35 years). SCD related complications included acute chest syndrome (ACS) in 52.8%, splenic sequestration in 21.1%, right upper quadrant syndrome in 19.5%, more than > 6 VOC/year in 17.9%, and stroke in 13.8%. At the terminal admission, patients had cough, reduced O2 saturation, crepitation and fever in 24.4%, 49.6%, 53.6% and 68.3% respectively. Abnormal chest X-ray and chest CT scan were seen in 57.7%, and 76.4% respectively. Laboratory parameters showed a significant drop in hemoglobin (Hb) and platelet counts from baseline, with a significant rise in WBC, LDH and CRP from baseline (p < 0.05, Wilcoxon Signed Ranks test). All patients received antibiotics, whereas, 95.9% and 93.5% received simple blood transfusions, and exchange transfusions respectively, and 66.6% required non-invasive ventilation. Among the causes of death, ACS is seen in 32 (26%), sepsis in 49 (40%), and miscellaneous in 42 (34%). Sudden death was seen in 32 (26%) of patients. Male gender, with low HbF, rapid drop in Hb and platelet, and increased in WBC, LDH, ferritin, and CRP, correlated significantly with mortality in this cohort.


Assuntos
Síndrome Torácica Aguda , Anemia Falciforme , Adulto , Criança , Feminino , Humanos , Masculino , Adulto Jovem , Causas de Morte , Causalidade , Fatores de Risco , Anemia Falciforme/complicações , Síndrome Torácica Aguda/etiologia , Antibacterianos
2.
Blood Rev ; 63: 101138, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-37867006

RESUMO

ß-Thalassemia is one of the most common monogenetic diseases worldwide, with a particularly high prevalence in the Middle East region. As such, we have developed long-standing experience with disease management and devising solutions to address challenges attributed to resource limitations. The region has also participated in the majority of clinical trials and development programs of iron chelators and more novel ineffective erythropoiesis-targeted therapy. In this review, we provide a practical overview of management for patients with transfusion-dependent ß-thalassemia, primarily driven by such experiences, with the aim of transferring knowledge to colleagues in other regions facing similar challenges.


Assuntos
Sobrecarga de Ferro , Talassemia , Talassemia beta , Humanos , Talassemia beta/terapia , Talassemia beta/tratamento farmacológico , Talassemia/tratamento farmacológico , Transfusão de Sangue , Quelantes de Ferro/uso terapêutico , Prevalência , Sobrecarga de Ferro/tratamento farmacológico
3.
Blood Rev ; 61: 101102, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37355428

RESUMO

Artificial intelligence (AI) is rapidly becoming an established arm in medical sciences and clinical practice in numerous medical fields. Its implications have been rising and are being widely used in research, diagnostics, and treatment options for many pathologies, including sickle cell disease (SCD). AI has started new ways to improve risk stratification and diagnosing SCD complications early, allowing rapid intervention and reallocation of resources to high-risk patients. We reviewed the literature for established and new AI applications that may enhance management of SCD through advancements in diagnosing SCD and its complications, risk stratification, and the effect of AI in establishing an individualized approach in managing SCD patients in the future. Aim: to review the benefits and drawbacks of resources utilizing AI in clinical practice for improving the management for SCD cases.

4.
Front Med (Lausanne) ; 10: 1149281, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37153104

RESUMO

Background: Sickle cell disease is an inherited disorder characterized by the presence of sickle hemoglobin (HbS). The process of Hb molecule polymerization is a pivotal step in the sickling process. Voxelotor, a recently approved novel therapeutic agent, is known to interfere with polymerization. We aim to study the impact of Voxelotor on Hb variants analysis using high performance liquid chromatography (HPLC). Material and methods: We are reporting the impact of Voxelotor on Hb variants analysis using HPLC after an informed consent and medical research committee approval. Data was collected from eight patients who are enrolled in the GBT440-034OL study using electronic medical records, to evaluate the Hb levels, hemolytic markers and the clinical response. Results: Our patients were well-balanced for gender, with a mean age of 31.1 years (19-50). Six patients showed a significant improvement in the Hb level, with reduced reticulocytes, bilirubin, LDH and an improved clinical outcome. Interestingly, these patients showed the appearance of a split band of Hb S and D on HPLC impacting significantly on HbS level. Two patients did not show any improvement on laboratory parameters, and no changes on their HPLC analysis. Conclusions: We report here eight patients on Voxelotor therapy, six of which showed improved hemolytic markers and anemia and demonstrated the appearance of HbD peak on the HPLC chromatogram. Therefore, the absence of HbD on HPLC or other laboratory methods for estimating HbS in patients on Voxelotor therapy, gives the clinician a possible hint regarding the patient's compliance with the drug.

6.
J Int Med Res ; 49(12): 3000605211055385, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34855536

RESUMO

OBJECTIVE: To assess the clinical and laboratory predictors of venous thromboembolism (VTE) in patients with sickle cell anaemia (SCA) and its relationship to morbidity and mortality. METHODS: This retrospective case-control study analysed data from patients with SCA that experienced VTE compared with matched control patients with SCA but no VTE (2:1 ratio). RESULTS: A total of 102 patients with SCA were enrolled (68 cases with VTE and 34 controls). Amongst the 68 cases (median age, 29.5 years), 26 (38.2%) presented with isolated pulmonary embolism (PE). A higher prevalence of splenectomy (73.5% versus 35.3%) was observed in the cases compared with the controls. A significantly higher prevalence of central venous catheter (CVC) insertion (42.6% versus 8.8%) was observed in the cases compared with the controls. High white blood cell counts, serum lactic dehydrogenase (LDH), bilirubin and C-reactive protein (CRP) and low haemoglobin (Hb) and HbF were significant risk factors for VTE. Forty-two cases (61.8%) developed acute chest syndrome, 10 (14.7%) had a stroke and seven (10.3%) died. CONCLUSIONS: VTE in patients with SCA has a high impact on morbidity and mortality. PE was the leading presentation of VTE, with CVC insertion, high LDH, bilirubin, CRP and white blood cell counts along with low Hb and HbF constituting other significant risk factors.


Assuntos
Anemia Falciforme , Tromboembolia Venosa , Adulto , Anemia Falciforme/complicações , Estudos de Casos e Controles , Humanos , Estudos Retrospectivos , Fatores de Risco , Tromboembolia Venosa/etiologia , Tromboembolia Venosa/prevenção & controle
7.
Front Med (Lausanne) ; 8: 731102, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34760898

RESUMO

The treatment of sickle cell disease (SCD) is mainly supportive, except for a minority, who receive bone marrow transplantation (BMT). Serum ferritin (SF) is routinely available but is notoriously unreliable as a tool for iron-overload assessment since it is an acute-phase reactant. Although blood transfusion is one of the most effective ways to deal with specific acute and chronic complications of SCD, this strategy is often associated with alloimmunization, iron overload, and hemolytic reactions. This study, thus, aims to evaluate iron overload in patients with SCD on chronic blood transfusions and specifically, correlate SF with the current standard of care of iron-overload assessment using MRI-based imaging techniques. Amongst a historic cohort of 58 chronically transfused patients with SCD, we were able to evaluate 44 patients who are currently alive and had multiple follow-up testing. Their mean age (±SD) was 35 (9) years and comprised of 68.2% of women. The studied iron-overload parameters included cardiac T2* MRI, liver iron concentration (LIC) by Liver T2* MRI, and serial SF levels. Additionally, in a smaller cohort, we also studied LIC by FerriScan© R2-MRI. Chronic blood transfusions were necessary for severe vaso-occlusive crisis (VOC) (38.6%), severe symptomatic anemia (38.6%), past history of stroke (15.9%), and recurrent acute chest syndrome (6.9%). About 14 (24%) patients among the original cohort died following SCD-related complications. Among the patients currently receiving chelation, 26 (96%) are on Deferasirox (DFX) [Jadenu® (24) or Exjade® (2)], with good compliance and tolerance. However, one patient is still receiving IV deferoxamine (DFO), in view of the significantly high systemic iron burden. In this evaluable cohort of 44 patients, the mean SF (±SD) reduced marginally from 4,311 to 4,230 ng/ml, mean Liver T2* MRI dropped from 12 to 10.3 mg/gm dry weight, while the mean cardiac T2*MRI improved from 36.8 to 39.5 ms. There was a mild to moderate correlation between the baseline and final values of SF ng/ml, r = 0.33, p = 0.01; Cardiac T2* MRI ms, r = 0.3, p = 0.02 and Liver T2* MRI mg/kg dry weight, r = 0.6, p < 0.001. Overall, there was a positive correlation between SF and Liver T2* MRI (Pearson's r = 0.78, p < 0.001). Cardiac T2*MRI increased with the decreasing SF concentration, showing a negative correlation which was statistically significant (Pearson's r = -0.6, p < 0.001). Furthermore, there was an excellent correlation between SF ng/ml and LIC by FerriScan© R2-MRI mg/g or mmol/kg (Spearmen's rho = -0.723, p < 0.008) in a small subset of patients (n = 14) who underwent the procedure. In conclusion, our study demonstrated a good correlation between serial SF and LIC by either Liver MRI T2* or by FerriScan© R2-MRI, even though SF is an acute-phase reactant. It also confirms the cardiac sparing effect in patients with SCD, even with the significant transfusion-related iron burden. About 14 (24%) patients of the original cohort died over the past 15 years, indicative of a negative impact of iron overload on disease morbidity and mortality.

8.
Contemp Clin Trials ; 110: 106546, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34509600

RESUMO

The pivotal Endari trial in sickle cell disease showed a reduction in pain crises events. This reanalysis of the l-glutamine phase 3 trial using annual rates of pain crises, consistent with other SCD studies, supported the statistically significant outcomes of the original analysis. The observed 45% difference in the VOC rate is comparable to what was reported in other sickle cell therapeutics used to reduce the incidence of pain. The results presented in this communication are informative for clinicians evaluating treatment effects across available SCD therapeutic options based on studies that utilized VOC as the primary endpoint.


Assuntos
Anemia Falciforme , Glutamina , Anemia Falciforme/complicações , Anemia Falciforme/tratamento farmacológico , Comunicação , Humanos , Dor/tratamento farmacológico , Dor/etiologia
9.
Oman Med J ; 36(3): e270, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34164159

RESUMO

OBJECTIVES: We sought to investigate the nutritional and hematological status of Sudanese women of childbearing age with sickle cell anemia (SCA). Anthropometry and hematology were used to assess nutritional status and health and disease conditions, respectively. METHODS: Women with steady-state (HbSS, n = 39; age = 19.0±2.7) and without (HbAA, n = 36; age, 19.8±2.7) SCA were recruited during a routine visit to the Hematology Clinic, Ibn-Auf Teaching Hospital, Khartoum, Sudan. RESULTS: The two groups of women lived in similar environmental conditions and ate similar diets three times a day. However, despite taking regular meals, the women with sickle anemia were thinner and lighter (p < 0.001) and shorter (p = 0.002) compared with those who do not have the disease. Also, they had higher levels of mean corpuscular hemoglobin (Hb) concentration and white cell count (p < 0.001), mean corpuscular volume (p = 0.003), and platelet (p = 0.002) and lower packed cell volume and Hb (p < 0.001). There was no difference in levels of anthropometric and hematological variables between the hydroxyurea treated and untreated SCA patients (p > 0.050). CONCLUSIONS: The low anthropometric (height, weight, and body mass index) and abnormal hematological values in the women with SCA in steady-state reflect sustained nutritional insults inflected by the disease and poverty. Tailored nutritional counseling/advice must be an integral part of managing patients with SCA. Such advice is particularly vital for women of childbearing age because of the adverse effects of prepregnancy nutritional deficiency on outcomes.

10.
Oman Med J ; 35(6): e197, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33214911

RESUMO

OBJECTIVES: Patients with sickle cell anemia (SCA) are immunocompromised and at an increased risk of developing infections. Our aim was to establish the clinical, laboratory, and radiological manifestations of respiratory viral infections in SCA at Sultan Qaboos University Hospital (SQUH), Oman and assess its impact on disease morbidity and mortality, with special emphasis on H1N1. METHODS: We undertook a retrospective study in SCA patients with respiratory viral infections following up at the hematology department at SQUH. We collected demographic data and clinical, radiological, and laboratory parameters. RESULTS: In 84 SCA patients with 109 admission episodes for vaso-occlusive crisis (VOC), molecular diagnostic techniques confirmed 125 respiratory viral infections. Rhinovirus was the most prevalent infection (35.8%), whereas H1N1 virus infection was seen only in 10.1%. Laboratory investigations revealed a significant fall in mean hemoglobin levels, mean white blood cell, and platelet counts from baseline, whereas there was a significant rise in the mean lymphocyte and retic count, serum lactate dehydrogenase, and C-reactive protein levels during infective episodes (p < 0.050, Wilcoxon signed rank test). One-third (32.1%) of the VOC episodes progressed to acute chest syndrome (ACS), but in the H1N1 cohort, only two episodes of ACS was seen (18.2%). CONCLUSIONS: Rhinovirus was the commonest respiratory virus infections in SCA patients, whereas parainfluenza 3 was associated with a significant adverse outcome. H1N1 was associated with a mild course. ACS was seen in approximately one-third of this group of patients.

11.
Acta Biomed ; 91(3): e2020026, 2020 09 07.
Artigo em Inglês | MEDLINE | ID: mdl-32921722

RESUMO

A review of the literature on COVID-19 pandemic in patients with thalassemias is presented. Globally, the prevalence of COVID-19 among  ß-thalassemia patients seems to be lower than in general population; associated co-morbidities aggravated the severity of  COVID- 19, leading to a poorer prognosis, irrespective of age. A multicenter registry will enhance the understanding of COVID-19 in these patients and will lead to more evidence-based management recommendations.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , Talassemia/epidemiologia , COVID-19 , Comorbidade , Saúde Global , Humanos , Prevalência , SARS-CoV-2
12.
Blood ; 136(26): 3056-3061, 2020 12 24.
Artigo em Inglês | MEDLINE | ID: mdl-32814348

RESUMO

Management of immune thrombocytopenia (ITP) during pregnancy can be challenging because treatment choices are limited. Thrombopoietin receptor agonists (Tpo-RAs), which likely cross the placenta, are not recommended during pregnancy. To better assess the safety and efficacy of off-label use of Tpo-RAs during pregnancy, a multicenter observational and retrospective study was conducted. Results from 15 pregnant women with ITP (pregnancies, n = 17; neonates, n = 18) treated with either eltrombopag (n = 8) or romiplostim (n = 7) during pregnancy, including 2 patients with secondary ITP, were analyzed. Median time of Tpo-RA exposure during pregnancy was 4.4 weeks (range, 1-39 weeks); the indication for starting Tpo-RAs was preparation for delivery in 10 (58%) of 17 pregnancies, whereas 4 had chronic refractory symptomatic ITP and 3 were receiving eltrombopag when pregnancy started. Regarding safety, neither thromboembolic events among mothers nor Tpo-RA-related fetal or neonatal complications were observed, except for 1 case of neonatal thrombocytosis. Response to Tpo-RAs was achieved in 77% of cases, mostly in combination with concomitant ITP therapy (70% of responders). On the basis of these preliminary findings, temporary off-label use of Tpo-RAs for severe and/or refractory ITP during pregnancy seems safe for both mother and neonate and is likely to be helpful, especially before delivery.


Assuntos
Benzoatos/administração & dosagem , Hidrazinas/administração & dosagem , Complicações Hematológicas na Gravidez/tratamento farmacológico , Púrpura Trombocitopênica Idiopática/tratamento farmacológico , Pirazóis/administração & dosagem , Receptores Fc/administração & dosagem , Receptores de Trombopoetina , Proteínas Recombinantes de Fusão/administração & dosagem , Trombopoetina/administração & dosagem , Adulto , Benzoatos/efeitos adversos , Feminino , Seguimentos , Humanos , Hidrazinas/efeitos adversos , Gravidez , Pirazóis/efeitos adversos , Proteínas Recombinantes de Fusão/efeitos adversos , Estudos Retrospectivos , Trombopoetina/efeitos adversos
13.
Mediterr J Hematol Infect Dis ; 12(1): e2020046, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32670524

RESUMO

OBJECTIVES: This study aims to investigate, retrospectively, the epidemiological and clinical characteristics, laboratory results, radiologic findings, and outcomes of COVID-19 in patients with transfusion-dependent ß thalassemia major (TM), ß-thalassemia intermedia (TI) and sickle cell disease (SCD). DESIGN: A total of 17 Centers, from 10 countries, following 9,499 patients with hemoglobinopathies, participated in the survey. MAIN OUTCOME DATA: Clinical, laboratory, and radiologic findings and outcomes of patients with COVID-19 were collected from medical records and summarized. RESULTS: A total of 13 patients, 7 with TM, 3 with TI, and 3 with SCD, with confirmed COVID-19, were identified in 6 Centers from different countries. The overall mean age of patients was 33.7±12.3 years (range:13-66); 9/13 (69.2%) patients were females. Six patients had pneumonia, and 4 needed oxygen therapy. Increased C-reactive protein (6/10), high serum lactate dehydrogenase (LDH; 6/10), and erythrocyte sedimentation rate (ESR; 6/10) were the most common laboratory findings. 6/10 patients had an exacerbation of anemia (2 with SCD). In the majority of patients, the course of COVID-19 was moderate (6/10) and severe in 3/10 patients. A 30-year-old female with TM, developed a critical SARS-CoV-2 infection, followed by death in an Intensive Care Unit. In one Center (Oman), the majority of suspected cases were observed in patients with SCD between the age of 21 and 40 years. A rapid clinical improvement of tachypnea/dyspnea and oxygen saturation was observed, after red blood cell exchange transfusion, in a young girl with SCD and worsening of anemia (Hb level from 9.2 g/dl to 6.1g/dl). CONCLUSIONS: The data presented in this survey permit an early assessment of the clinical characteristics of COVID 19 in different countries. 70% of symptomatic patients with COVID- 19 required hospitalization. The presence of associated co-morbidities can aggravate the severity of COVID- 19, leading to a poorer prognosis irrespective of age.

14.
Sci Rep ; 10(1): 2470, 2020 02 12.
Artigo em Inglês | MEDLINE | ID: mdl-32051480

RESUMO

Acute chest syndrome (ACS) is a major complication of sickle cell anaemia (SCA) and a leading cause for hospital admissions and death. We aimed to study the spectrum of clinical and laboratory features of ACS and to assess the predisposing factors and predictors of severity. A retrospective case-control cohort was studied by retrieving patient information from electronic medical records after ethical approval. One hundred adolescents and adults with SCA and hospital admissions for ACS were identified through the discharge summaries, along with 20 additional patients presenting with VOC, but without ACS (controls). Among the patients with ACS, fever (>38.5 °C), reduced oxygen saturation (<95) and asplenia significantly differed when compared to those of controls (p < 0.05, chi-squared test). The degree of severity was reflected in the use of non-invasive ventilation (NIV), simple and exchange transfusions, and the presence of bilateral pleural effusions and multi-lobar atelectasis/consolidation, which were significantly higher in the cases with ACS than in the controls. Lower haemoglobin (Hb) and high WBC counts were also significantly different between the two groups (p < 0.05, Student's t test). Using logistic regression, our study further demonstrated that asplenia, fever, and reduced O2 saturation, along with low Hb and leukocytosis, were important predictors for the development of ACS.


Assuntos
Síndrome Torácica Aguda/sangue , Anemia Falciforme/complicações , Síndrome Torácica Aguda/diagnóstico , Síndrome Torácica Aguda/etiologia , Adulto , Anemia Falciforme/sangue , Biomarcadores/sangue , Feminino , Hemoglobinas/análise , Humanos , Masculino , Registros Médicos/estatística & dados numéricos , Oxigênio/sangue
16.
Mediterr J Hematol Infect Dis ; 11(1): e2019058, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31700583

RESUMO

BACKGROUND: In Oman, the prevalence of hepatitis B (HBV) infection is 5.8%, with 2.8-7.1% HBV carriers. Hepatitis C (HCV) prevalence among Omanis is 0.41%. A total of 2917 human immunodeficiency virus (HIV) infections were notified among Omanis by 2017. This study was performed as there was no data on the prevalence of HIV, HBV and HCV in sickle cell disease (SCD) patients from Oman. STUDY DESIGN AND METHODS: In this retrospective, cross-sectional study, medical records of all SCD patients who attended our hospital between 2011 to 2017 were retrieved from the hospital information system. Following approval by the local medical research and ethics committee, data on HIV, HBV, and HCV exposure were recorded to estimate the prevalence. RESULTS: Among a total of 1000 SCD patients (491 males and 509 females), twenty-three (2.3%) patients showed positive serology for hepatitis B surface antigen (HbsAg), of whom sixteen (1.6%) were HBV DNA positive. 126 (12.6%) had anti-HCV antibodies (anti-HCV), of whom fifty-two (5.2%) were HCV RNA positive. None of the patients had positive serology for HIV. A normal liver was observed on abdominal ultrasound in 788 (78.8%) patients, whereas 208 (20.8%) had hepatomegaly, and 4 (0.4%) had liver cirrhosis. Thirty-six (3.6%) patients died, but in only two patients, the mortality was due to cirrhosis of liver. CONCLUSIONS: This study provides the first comprehensive data on the prevalence of HBV and HCV infections among Omani SCD patients exposed to blood transfusions. Reassuringly, no case with HIV was observed.

17.
N Engl J Med ; 381(6): 509-519, 2019 08 08.
Artigo em Inglês | MEDLINE | ID: mdl-31199090

RESUMO

BACKGROUND: Deoxygenated sickle hemoglobin (HbS) polymerization drives the pathophysiology of sickle cell disease. Therefore, direct inhibition of HbS polymerization has potential to favorably modify disease outcomes. Voxelotor is an HbS polymerization inhibitor. METHODS: In a multicenter, phase 3, double-blind, randomized, placebo-controlled trial, we compared the efficacy and safety of two dose levels of voxelotor (1500 mg and 900 mg, administered orally once daily) with placebo in persons with sickle cell disease. The primary end point was the percentage of participants who had a hemoglobin response, which was defined as an increase of more than 1.0 g per deciliter from baseline at week 24 in the intention-to-treat analysis. RESULTS: A total of 274 participants were randomly assigned in a 1:1:1 ratio to receive a once-daily oral dose of 1500 mg of voxelotor, 900 mg of voxelotor, or placebo. Most participants had sickle cell anemia (homozygous hemoglobin S or hemoglobin Sß0-thalassemia), and approximately two thirds were receiving hydroxyurea at baseline. In the intention-to-treat analysis, a significantly higher percentage of participants had a hemoglobin response in the 1500-mg voxelotor group (51%; 95% confidence interval [CI], 41 to 61) than in the placebo group (7%; 95% CI, 1 to 12). Anemia worsened between baseline and week 24 in fewer participants in each voxelotor dose group than in those receiving placebo. At week 24, the 1500-mg voxelotor group had significantly greater reductions from baseline in the indirect bilirubin level and percentage of reticulocytes than the placebo group. The percentage of participants with an adverse event that occurred or worsened during the treatment period was similar across the trial groups. Adverse events of at least grade 3 occurred in 26% of the participants in the 1500-mg voxelotor group, 23% in the 900-mg voxelotor group, and 26% in the placebo group. Most adverse events were not related to the trial drug or placebo, as determined by the investigators. CONCLUSIONS: In this phase 3 randomized, placebo-controlled trial involving participants with sickle cell disease, voxelotor significantly increased hemoglobin levels and reduced markers of hemolysis. These findings are consistent with inhibition of HbS polymerization and indicate a disease-modifying potential. (Funded by Global Blood Therapeutics; HOPE ClinicalTrials.gov number, NCT03036813.).


Assuntos
Anemia Falciforme/tratamento farmacológico , Antidrepanocíticos/administração & dosagem , Benzaldeídos/administração & dosagem , Hemoglobina Falciforme/efeitos dos fármacos , Hemoglobinas/metabolismo , Pirazinas/administração & dosagem , Pirazóis/administração & dosagem , Adolescente , Adulto , Anemia Falciforme/sangue , Antidrepanocíticos/efeitos adversos , Antidrepanocíticos/uso terapêutico , Benzaldeídos/efeitos adversos , Biomarcadores/sangue , Criança , Relação Dose-Resposta a Droga , Método Duplo-Cego , Quimioterapia Combinada , Feminino , Hemoglobina Falciforme/metabolismo , Hemólise/efeitos dos fármacos , Humanos , Hidroxiureia/uso terapêutico , Análise de Intenção de Tratamento , Masculino , Pessoa de Meia-Idade , Polimerização/efeitos dos fármacos , Pirazinas/efeitos adversos , Pirazóis/efeitos adversos , Adulto Jovem
18.
Hematol Oncol Stem Cell Ther ; 12(3): 127-132, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30653940

RESUMO

BACKGROUND: Patients undergoing hematopoietic stem cell transplantation (HSCT) are often referred for physical therapy (PT) to help improve their quality of life. However, to our knowledge there is no clear PT pathway to guide therapists and patients before, during, and after HSCT. METHODS: A comprehensive literature review was carried out exploring the role and benefits of PT in HSCT patients. The current evidence was comlimented with recommendations and opinions from the experts in the field, which included PT's and hematology consultants from PTAGVHD and the EMBMT group. RESULT: A clear pathway and protocol as a working guide for rehabilitation professionals working with the HSCT patient's was developed. CONCLUSION: This paper not only reviews the current evidence on safe PT practice but also puts forward a protocol and pathway for HSCT rehabilitation, highlights the importance of individualized exercise intervention for HSCT patients, and outlines safe practice guidelines for the physical therapists working in this field.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Modalidades de Fisioterapia , Qualidade de Vida , Transfusão de Sangue , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Transplante de Células-Tronco Hematopoéticas/métodos , Humanos , Aptidão Física , Contagem de Plaquetas
19.
J Clin Pathol ; 71(4): 303-308, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28784617

RESUMO

OBJECTIVES: To describe the laboratory features of haemoglobin Fontainebleau (Hb FB) and its interactions with various α and ß globin gene mutations in the Omani population. METHODS: Over a period of 10 years, a total of 94 blood samples were suspected to have an α variant on HPLC at the Sultan Qaboos University Hospital, Muscat, Oman. Molecular testing was performed using PCR based techniques to define the variant and to analyse other interacting mutations in either α or ß globin genes. RESULTS: Of 94 subjects, molecular analysis confirmed the Hb FB variant in 55 samples (38 non-cord and 17 cord blood). A total of 36/38 non-cord samples were heterozygous for the variant, while all 17 cord blood samples were heterozygotes. A total of 43/55 individuals had a concomitant α and/or ß globin gene mutation. CONCLUSIONS: Hb FB is the the most common α variant in the Omani population. We report the different HPLC profiles of this variant that we observed, with and without other haemoglobinopathies in non-cord and cord blood samples. This is the first report describing the HPLC profiles of this α globin chain variant on 1 year follow-up testing of cord blood samples. With careful analysis by HPLC, it is possible not only to identify Hb FB but also to predict any concomitant α and/or ß globin gene mutations.


Assuntos
Hemoglobinopatias/genética , Hemoglobinas Anormais/genética , Hemoglobinopatias/sangue , Humanos , Mutação , Omã
20.
Sultan Qaboos Univ Med J ; 17(3): e309-e313, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29062553

RESUMO

OBJECTIVES: Pre-analytic errors during diagnostic laboratory investigations can lead to increased patient morbidity and mortality. This study aimed to ascertain the effect of educational nursing activities on the incidence of pre-analytical errors resulting in non-conforming blood samples. METHODS: This study was conducted between January 2008 and December 2015. All specimens received at the Haematology Laboratory of the Sultan Qaboos University Hospital, Muscat, Oman, during this period were prospectively collected and analysed. Similar data from 2007 were collected retrospectively and used as a baseline for comparison. Non-conforming samples were defined as either clotted samples, haemolysed samples, use of the wrong anticoagulant, insufficient quantities of blood collected, incorrect/lack of labelling on a sample or lack of delivery of a sample in spite of a sample request. From 2008 onwards, multiple educational training activities directed at the hospital nursing staff and nursing students primarily responsible for blood collection were implemented on a regular basis. RESULTS: After initiating corrective measures in 2008, a progressive reduction in the percentage of non-conforming samples was observed from 2009 onwards. Despite a 127.84% increase in the total number of specimens received, there was a significant reduction in non-conforming samples from 0.29% in 2007 to 0.07% in 2015, resulting in an improvement of 75.86% (P <0.050). In particular, specimen identification errors decreased by 0.056%, with a 96.55% improvement. CONCLUSION: Targeted educational activities directed primarily towards hospital nursing staff had a positive impact on the quality of laboratory specimens by significantly reducing pre-analytical errors.


Assuntos
Coleta de Amostras Sanguíneas , Erros de Diagnóstico/prevenção & controle , Testes Hematológicos , Recursos Humanos de Enfermagem no Hospital/educação , Coleta de Amostras Sanguíneas/normas , Coleta de Amostras Sanguíneas/estatística & dados numéricos , Erros de Diagnóstico/tendências , Testes Hematológicos/estatística & dados numéricos , Humanos , Omã , Estudos Prospectivos , Melhoria de Qualidade , Manejo de Espécimes/efeitos adversos
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