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[PMID]:28467344
[Au] Autor:Soliman AT; De Sanctis V; Yassin M; Adel A
[Ad] Endereço:Department of Pediatrics, Alexandria University Children Hospital, Elchatby, Alexandria, Egypt. vdesanctis@libero.it.
[Ti] Título:Growth and Growth hormone - Insulin Like Growth Factor -I (GH-IGF-I) Axis in Chronic Anemias.
[So] Source:Acta Biomed;88(1):101-111, 2017 Apr 28.
[Is] ISSN:0392-4203
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:Anaemia is a global public health problem affecting both developing and developed countries with major consequences for human health as well as social and economic development. It occurs at all stages of the life cycle, but is more prevalent in pregnant women and young children. Iron deficiency anaemia (IDA) was considered to be among the most important contributing factors to the global burden of disease. Prolonged and/or chronic anemia has a negative effect on linear growth especially during the rapid phases (infancy and puberty). Additionally infants with chronic IDA have delayed cognitive, motor, and affective development that may be long-lasting. In view of the significant impact of chronic anemias on growth, pediatricians endocrinologists and hematologists should advocate primary prevention and screening for growth disturbance in these forms of anemias. The extent of the negative effect of different forms of chronic anemias on linear growth and its possible reversibilty is addressed in this review. The possible mechanisms that may impair growth in the different forms of anemias are addressed with special attention to their effect on the growth hormone (GH) - insulin like growth factor -I (IGF-I).
[Mh] Termos MeSH primário: Anemia Ferropriva/sangue
Anemia Ferropriva/terapia
Desenvolvimento Infantil
Hormônio do Crescimento Humano/sangue
Fator de Crescimento Insulin-Like I/análise
[Mh] Termos MeSH secundário: Anemia Falciforme/complicações
Animais
Suplementos Nutricionais
Feminino
Seres Humanos
Lactente
Recém-Nascido de Baixo Peso
Ferro/uso terapêutico
Gravidez
Complicações Hematológicas na Gravidez
Talassemia/complicações
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
12629-01-5 (Human Growth Hormone); 67763-96-6 (Insulin-Like Growth Factor I); E1UOL152H7 (Iron)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180125
[Lr] Data última revisão:
180125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.23750/abm.v88i1.5744


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[PMID]:28748763
[Au] Autor:Nair M; Sandhu SS; Sharma AK
[Ad] Endereço:Stem Cell Technology Laboratory, Centre for Scientific Research & Development, People's University, Bhopal, M.P. - 462037. India.
[Ti] Título:Induced Pluripotent Stem Cell Technology: A Paradigm Shift in Medical Science for Drug Screening and Disease Modeling.
[So] Source:Curr Med Chem;24(39):4368-4398, 2017.
[Is] ISSN:1875-533X
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Induced Pluripotent Stem Cell (IPSC) Technology is the most advanced research as it offers an attractive alternative for establishing patient-specific IPSCs to recapitulate phenotypes of not only monogenic diseases (viz. Thalassaemia, Sickle cell anemia, Haemophilia, Tay-Sachs disease), but also late-onset polygenic diseases (viz. Parkinson's disease, Alzheimer's disease, schizophrenia). Over the hindsight, numerous studies of the past and current scientists have led to the production, maturation and understanding of induced pluripotent stem cell technology and its use in basic and clinical research. METHODS: A systematic search of peer-reviewed scientific literature and clinical trials in public databases were carried out to summarize the evidence on the use of IPSC. RESULTS: Current review sheds light upon the use of patient-derived iPSC models in drug toxicity, screening and discovery which have been derived after referring to more than 200 articles in literature. Furthermore, their use as disease models was also studied signifying the versatility of iPSC lines. CONCLUSION: Through this review, we describe the advent of iPSC technology, where we comprehensively cover the generation of iPSCs and their characterization along with their prospective applications using IPSC banks in disease modeling and drug screening.
[Mh] Termos MeSH primário: Modelos Animais de Doenças
Células-Tronco Pluripotentes Induzidas
Transplante de Células-Tronco
[Mh] Termos MeSH secundário: Doença de Alzheimer/terapia
Anemia Falciforme/terapia
Animais
Avaliação Pré-Clínica de Medicamentos
Hemofilia A/terapia
Seres Humanos
Doença de Parkinson/terapia
Esquizofrenia/terapia
Doença de Tay-Sachs/terapia
Talassemia/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180101
[Lr] Data última revisão:
180101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170728
[St] Status:MEDLINE
[do] DOI:10.2174/0929867324666170727100508


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[PMID]:28741691
[Au] Autor:Origa R; Tatti F; Zappu A; Leoni GB; Dessì C; Moi P; Morittu M; Orecchia V; Denotti AR; Pilia MP; Anni F; Perra M; Casini MR; Barella S
[Ad] Endereço:Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
[Ti] Título:Earlier initiation of transfusional and iron chelation therapies in recently born children with transfusion-dependent thalassemia.
[So] Source:Am J Hematol;92(11):E627-E628, 2017 Nov.
[Is] ISSN:1096-8652
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Transfusão de Sangue
Quelantes de Ferro/administração & dosagem
Talassemia/terapia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Fatores Etários
Criança
Pré-Escolar
Feminino
Seres Humanos
Lactente
Masculino
Talassemia/mortalidade
[Pt] Tipo de publicação:LETTER
[Nm] Nome de substância:
0 (Iron Chelating Agents)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171130
[Lr] Data última revisão:
171130
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170726
[St] Status:MEDLINE
[do] DOI:10.1002/ajh.24869


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[PMID]:28875336
[Au] Autor:Maira D; Cassinerio E; Marcon A; Mancarella M; Fraquelli M; Pedrotti P; Cappellini MD
[Ad] Endereço:Rare Disease Center, Department of Medicine and Medical Specialities, Ca' Granda Foundation IRCCS Ospedale Maggiore Policlinico, University of Milan, Milan, Italy. diletta.maira@gmail.com.
[Ti] Título:Progression of liver fibrosis can be controlled by adequate chelation in transfusion-dependent thalassemia (TDT).
[So] Source:Ann Hematol;96(11):1931-1936, 2017 Nov.
[Is] ISSN:1432-0584
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:A substantial proportion of patients with transfusion-dependent beta-thalassemia major suffer from chronic liver disease. Iron overload resulting from repeated transfusions and HCV infection has been implicated in the development of liver fibrosis. Hepatic siderosis and fibrosis were assessed in 99 transfusion-dependent thalassemia (TDT) patients using transient elastography (TE) and liver iron concentration (LIC) assessed by T2*MRI at baseline and after 4 years. Data were analyzed retrospectively. At baseline, the overall mean liver stiffness measurement (LSM) was 7.4 ± 3.2 kPa and the mean LIC was 4.81 ± 3.82 mg/g dw (n = 99). Data available at 4 ± 1.5 years showed a significant reduction in LSM (6.6 ± 3.2 kPa, p 0.017) and hepatic siderosis measured by LIC (3.65 ± 3.45 mg/g dw, p 0.001). This result was confirmed when considering patients with iron overload at the time of the first measurement (n = 41) and subjects treated with a stable dose of deferasirox over the entire period of observation (n = 39). A reduction of LSM, yet not statistically significant, was achieved in patients on combined deferoxamine + deferiprone, while the group on deferoxamine (n = 11) remained stable over time. HCV-RNA positivity was found in 33 patients at T0, 20 of which were treated during the observation period. Patients who underwent anti-HCV therapy showed a more evident reduction in LSM (9 ± 3 vs 7 ± 3.1 kPa, p 0.016). Adequate chelation therapy is mandatory in order to prevent liver disease progression in TDT. Patients could benefit from regular non-invasive assessment of liver fibrosis by TE to indirectly monitor treatment adequacy and therapeutic compliance.
[Mh] Termos MeSH primário: Transfusão de Sangue/tendências
Quelantes de Ferro/uso terapêutico
Cirrose Hepática/diagnóstico por imagem
Cirrose Hepática/terapia
Talassemia/diagnóstico por imagem
Talassemia/terapia
[Mh] Termos MeSH secundário: Adulto
Terapia por Quelação/tendências
Estudos de Coortes
Progressão da Doença
Feminino
Seres Humanos
Cirrose Hepática/epidemiologia
Imagem por Ressonância Magnética/tendências
Masculino
Estudos Retrospectivos
Talassemia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Iron Chelating Agents)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170907
[St] Status:MEDLINE
[do] DOI:10.1007/s00277-017-3120-9


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[PMID]:28848193
[Au] Autor:Deeruksa L; Sanchaisuriya K
[Ad] Endereço:Public Health Program, Faculty of Science, Udon Thani Rajabhat University, Udon Thani, Thailand.
[Ti] Título:Anemia in the Elderly in Northeastern Thailand: A Community-Based Study Investigating Prevalence, Contributing Factors, and Hematologic Features.
[So] Source:Acta Haematol;138(2):96-102, 2017.
[Is] ISSN:1421-9662
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:This community-based study investigated anemia prevalence and certain hematologic features and their possible relationships to thalassemia and iron deficiency (ID) in a population of older people in Northeastern Thailand. Participants included 319 apparently healthy individuals ranging in age from 60 to 98 years, whose current health status was assessed by means of personal interviews. Blood samples were also collected to determine the following parameters: red blood cell indices, serum ferritin, C-reactive protein, hemoglobin profiles, and the α0-thalassemia gene. Based upon established WHO criteria, the overall prevalence of anemia was found to be 47.7%, increasing from 39% within the age group of 60-70 years to 68% in those >80 years. Factors considered to be significant contributors to anemia were classified as ID (3.6%), thalassemia (56.2%), and "unknown" (40.1%). Overall, only 2.4% of participants exhibited any ID. Hematologic changes appear to correlate with age. Our findings provide not only baseline information, potentially useful for implementing appropriate control measures, but also an enhanced awareness and understanding of the factors contributing to anemia among the elderly in the region.
[Mh] Termos MeSH primário: Anemia Ferropriva/epidemiologia
Talassemia/epidemiologia
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Proteína C-Reativa/análise
Feminino
Hemoglobina E/análise
Hemoglobinas/análise
Seres Humanos
Imunoensaio
Masculino
Meia-Idade
Prevalência
Tailândia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Hemoglobins); 9007-41-4 (C-Reactive Protein); 9034-61-1 (Hemoglobin E)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170830
[St] Status:MEDLINE
[do] DOI:10.1159/000478771


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[PMID]:28811305
[Au] Autor:Byrnes JR; Wolberg AS
[Ad] Endereço:Department of Pathology and Laboratory Medicine and McAllister Heart Institute, University of North Carolina, Chapel Hill, NC.
[Ti] Título:Red blood cells in thrombosis.
[So] Source:Blood;130(16):1795-1799, 2017 Oct 19.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Red blood cells (RBCs) have historically been considered passive bystanders in thrombosis. However, clinical and epidemiological studies have associated quantitative and qualitative abnormalities in RBCs, including altered hematocrit, sickle cell disease, thalassemia, hemolytic anemias, and malaria, with both arterial and venous thrombosis. A growing body of mechanistic studies suggests that RBCs can promote thrombus formation and enhance thrombus stability. These findings suggest that RBCs may contribute to thrombosis pathophysiology and reveal potential strategies for therapeutically targeting RBCs to reduce thrombosis.
[Mh] Termos MeSH primário: Eritrócitos/fisiologia
Trombose/sangue
[Mh] Termos MeSH secundário: Anemia Falciforme/sangue
Anemia Falciforme/patologia
Coagulação Sanguínea/fisiologia
Contagem de Eritrócitos
Eritrócitos/citologia
Eritrócitos/patologia
Hematócrito
Seres Humanos
Talassemia/sangue
Talassemia/patologia
Trombose/etiologia
Trombose/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171104
[Lr] Data última revisão:
171104
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170817
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2017-03-745349


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[PMID]:28809446
[Au] Autor:Bollig C; Schell LK; Rücker G; Allert R; Motschall E; Niemeyer CM; Bassler D; Meerpohl JJ
[Ad] Endereço:Cochrane Germany, Medical Center - Univ. of Freiburg, Faculty of Medicine, Univ. of Freiburg, Breisacher Straße 153, Freiburg, Germany, 79110.
[Ti] Título:Deferasirox for managing iron overload in people with thalassaemia.
[So] Source:Cochrane Database Syst Rev;8:CD007476, 2017 08 15.
[Is] ISSN:1469-493X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Thalassaemia is a hereditary anaemia due to ineffective erythropoiesis. In particular, people with thalassaemia major develop secondary iron overload resulting from regular red blood cell transfusions. Iron chelation therapy is needed to prevent long-term complications.Both deferoxamine and deferiprone are effective; however, a review of the effectiveness and safety of the newer oral chelator deferasirox in people with thalassaemia is needed. OBJECTIVES: To assess the effectiveness and safety of oral deferasirox in people with thalassaemia and iron overload. SEARCH METHODS: We searched the Cystic Fibrosis and Genetic Disorders Group's Haemoglobinopathies Trials Register: 12 August 2016.We also searched MEDLINE, Embase, the Cochrane Library, Biosis Previews, Web of Science Core Collection and three trial registries: ClinicalTrials.gov; the WHO International Clinical Trials Registry Platform; and the Internet Portal of the German Clinical Trials Register: 06 and 07 August 2015. SELECTION CRITERIA: Randomised controlled studies comparing deferasirox with no therapy or placebo or with another iron-chelating treatment. DATA COLLECTION AND ANALYSIS: Two authors independently assessed risk of bias and extracted data. We contacted study authors for additional information. MAIN RESULTS: Sixteen studies involving 1807 randomised participants (range 23 to 586 participants) were included. Twelve two-arm studies compared deferasirox to placebo (two studies) or deferoxamine (seven studies) or deferiprone (one study) or the combination of deferasirox and deferoxamine to deferoxamine alone (one study). One study compared the combination of deferasirox and deferiprone to deferiprone in combination with deferoxamine. Three three-arm studies compared deferasirox to deferoxamine and deferiprone (two studies) or the combination of deferasirox and deferiprone to deferiprone and deferasirox monotherapy respectively (one study). One four-arm study compared two different doses of deferasirox to matching placebo groups.The two studies (a pharmacokinetic and a dose-escalation study) comparing deferasirox to placebo (n = 47) in people with transfusion-dependent thalassaemia showed that deferasirox leads to net iron excretion. In these studies, safety was acceptable and further investigation in phase II and phase III studies was warranted.Nine studies (1251 participants) provided data for deferasirox versus standard treatment with deferoxamine. Data suggest that a similar efficacy can be achieved depending on the ratio of doses of deferoxamine and deferasirox being compared. In the phase III study, similar or superior efficacy for the intermediate markers ferritin and liver iron concentration (LIC) could only be achieved in the highly iron-overloaded subgroup at a mean ratio of 1 mg of deferasirox to 1.8 mg of deferoxamine corresponding to a mean dose of 28.2 mg per day and 51.6 mg per day respectively. The pooled effects across the different dosing ratios are: serum ferritin, mean difference (MD) 454.42 ng/mL (95% confidence interval (CI) 337.13 to 571.71) (moderate quality evidence); LIC evaluated by biopsy or SQUID, MD 2.37 mg Fe/g dry weight (95% CI 1.68 to 3.07) (moderate quality evidence) and responder analysis, LIC 1 to < 7 mg Fe/g dry weight, risk ratio (RR) 0.80 (95% CI 0.69 to 0.92) (moderate quality evidence). The substantial heterogeneity observed could be explained by the different dosing ratios. Data on mortality (low quality evidence) and on safety at the presumably required doses for effective chelation therapy are limited. Patient satisfaction was better with deferasirox among those who had previously received deferoxamine treatment, RR 2.20 (95% CI 1.89 to 2.57) (moderate quality evidence). The rate of discontinuations was similar for both drugs (low quality evidence).For the remaining comparisons in people with transfusion-dependent thalassaemia, the quality of the evidence for outcomes assessed was low to very low, mainly due to the very small number of participants included. Four studies (205 participants) compared deferasirox to deferiprone; one of which (41 participants) revealed a higher number of participants experiencing arthralgia in the deferiprone group, but due to the large number of different types of adverse events reported and compared this result is uncertain. One study (96 participants) compared deferasirox combined with deferiprone to deferiprone with deferoxamine. Participants treated with the combination of the oral iron chelators had a higher adherence compared to those treated with deferiprone and deferoxamine, but no participants discontinued the study. In the comparisons of deferasirox versus combined deferasirox and deferiprone and that of deferiprone versus combined deferasirox and deferiprone (one study, 40 participants), and deferasirox and deferoxamine versus deferoxamine alone (one study, 94 participants), only a few patient-relevant outcomes were reported and no significant differences were observed.One study (166 participants) included people with non-transfusion dependent thalassaemia and compared two different doses of deferasirox to placebo. Deferasirox treatment reduced serum ferritin, MD -306.74 ng/mL (95% CI -398.23 to -215.24) (moderate quality evidence) and LIC, MD -3.27 mg Fe/g dry weight (95% CI -4.44 to -2.09) (moderate quality evidence), while the number of participants experiencing adverse events and rate of discontinuations (low quality evidence) was similar in both groups. No participant died, but data on mortality were limited due to a follow-up period of only one year (moderate quality evidence). AUTHORS' CONCLUSIONS: Deferasirox offers an important treatment option for people with thalassaemia and secondary iron overload. Based on the available data, deferasirox does not seem to be superior to deferoxamine at the usually recommended ratio of 1 mg of deferasirox to 2 mg of deferoxamine. However, similar efficacy seems to be achievable depending on the dose and ratio of deferasirox compared to deferoxamine. Whether this will result in similar efficacy and will translate to similar benefits in the long term, as has been shown for deferoxamine, needs to be confirmed. Data from randomised controlled trials on rare toxicities and long-term safety are still limited. However, after a detailed discussion of the potential benefits and risks, deferasirox could be offered as the first-line option to individuals who show a strong preference for deferasirox, and may be a reasonable treatment option for people showing an intolerance or poor adherence to deferoxamine.
[Mh] Termos MeSH primário: Benzoatos/uso terapêutico
Quelantes de Ferro/uso terapêutico
Sobrecarga de Ferro/tratamento farmacológico
Talassemia/complicações
Triazóis/uso terapêutico
[Mh] Termos MeSH secundário: Administração Oral
Benzoatos/administração & dosagem
Benzoatos/efeitos adversos
Ensaios Clínicos Fase II como Assunto
Ensaios Clínicos Fase III como Assunto
Desferroxamina/administração & dosagem
Desferroxamina/uso terapêutico
Transfusão de Eritrócitos/efeitos adversos
Ferritinas/sangue
Seres Humanos
Quelantes de Ferro/administração & dosagem
Quelantes de Ferro/efeitos adversos
Sobrecarga de Ferro/sangue
Sobrecarga de Ferro/etiologia
Satisfação do Paciente
Piridonas/administração & dosagem
Piridonas/uso terapêutico
Ensaios Clínicos Controlados Aleatórios como Assunto
Talassemia/mortalidade
Talassemia/terapia
Triazóis/administração & dosagem
Triazóis/efeitos adversos
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (Benzoates); 0 (Iron Chelating Agents); 0 (Pyridones); 0 (Triazoles); 2BTY8KH53L (deferiprone); 9007-73-2 (Ferritins); J06Y7MXW4D (Deferoxamine); V8G4MOF2V9 (deferasirox)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170919
[Lr] Data última revisão:
170919
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170816
[St] Status:MEDLINE
[do] DOI:10.1002/14651858.CD007476.pub3


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[PMID]:28694728
[Au] Autor:Prommetta S; Sanchaisuriya K; Fucharoen G; Yamsri S; Chaiboonroeng A; Fucharoen S
[Ad] Endereço:Medical Science Program, Graduate School, Khon Kaen University, Thailand.
[Ti] Título:Evaluation of staff performance and interpretation of the screening program for prevention of thalassemia.
[So] Source:Biochem Med (Zagreb);27(2):387-397, 2017 Jun 15.
[Is] ISSN:1330-0962
[Cp] País de publicação:Croatia
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Thalassemia screening program has been implemented for years in Southeast Asia, but no external quality assessment program has been established. We have developed and initiated the proficiency testing (PT) program for the first time in Thailand with the aim to assess the screening performance of laboratory staff and their competency in interpretation of the screening results. MATERIALS AND METHODS: Three PT cycles per year were organized. From the first to the third cycle of the PT scheme, a total number of participant laboratories increased from 59 to 67. In each cycle, 2 PT items (assigned as blood samples of the couple) were provided. Performance evaluation was based on the accuracy of screening results, . mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH) and the dichlorophenolindophenol (DCIP) test for haemoglobin E, including the competency in interpretation of screening results and assessment of foetal risk. Performance was assessed by comparing the participants' result against the assigned value. RESULTS: Of all 3 cycles, most laboratories reported acceptable MCV and MCH values. From the first to the third cycle, incorrect DCIP test and misinterpretation rates were decreased while incorrect risk assessment varied by cycle to cycle. Combining the accuracy of thalassemia screening and the competency in interpretation and risk assessment, approximately half of participants showed excellent performance. CONCLUSION: Improved performance observed in many laboratories reflects the achievement and benefit of the PT program which should be regularly provided.
[Mh] Termos MeSH primário: Ensaio de Proficiência Laboratorial/normas
Programas de Rastreamento/normas
Talassemia/diagnóstico
Talassemia/prevenção & controle
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Masculino
Programas de Rastreamento/métodos
Gravidez
Controle de Qualidade
Reprodutibilidade dos Testes
Sensibilidade e Especificidade
Tailândia
[Pt] Tipo de publicação:EVALUATION STUDIES; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170908
[Lr] Data última revisão:
170908
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170712
[St] Status:MEDLINE
[do] DOI:10.11613/BM.2017.040


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[PMID]:28605432
[Au] Autor:Sabath DE
[Ad] Endereço:Department of Laboratory Medicine, University of Washington, Seattle.
[Ti] Título:Molecular Diagnosis of Thalassemias and Hemoglobinopathies: An ACLPS Critical Review.
[So] Source:Am J Clin Pathol;148(1):6-15, 2017 Jul 01.
[Is] ISSN:1943-7722
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Objectives: To describe the use of molecular diagnostic techniques for patients with hemoglobin disorders. Methods: A clinical scenario is presented in which molecular diagnosis is important for genetic counseling. Globin disorders, techniques for their diagnosis, and the role of molecular genetic testing in managing patients with these disorders are described in detail. Results: Hemoglobin disorders, including thalassemias and hemoglobinopathies, are among the commonest genetic diseases, and the clinical laboratory is essential for the diagnosis of patients with these abnormalities. Most disorders can be diagnosed with protein-based techniques such as electrophoresis and chromatography. Since severe syndromes can result due to inheritance of combinations of globin genetic disorders, genetic counseling is important to prevent adverse outcomes. Protein-based methods cannot always detect potentially serious thalassemia disorders; in particular, α-thalassemia may be masked in the presence of ß-thalassemia. Deletional forms of ß-thalassemia are also sometimes difficult to diagnose definitively with standard methods. Conclusions: Molecular genetic testing serves an important role in identifying individuals carrying thalassemia traits that can cause adverse outcomes in offspring. Furthermore, prenatal genetic testing can identify fetuses with severe globin phenotypes.
[Mh] Termos MeSH primário: Hemoglobinopatias/diagnóstico
Técnicas de Diagnóstico Molecular
Talassemia/diagnóstico
[Mh] Termos MeSH secundário: Feminino
Testes Genéticos
Hemoglobinopatias/genética
Seres Humanos
Masculino
Gravidez
Diagnóstico Pré-Natal
Talassemia/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171009
[Lr] Data última revisão:
171009
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170613
[St] Status:MEDLINE
[do] DOI:10.1093/ajcp/aqx047


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[PMID]:28598970
[Au] Autor:Jang TY; Lin PC; Huang CI; Liao YM; Yeh ML; Zeng YS; Liang PC; Hsu WY; Tsai SP; Lin ZY; Chen SC; Huang JF; Dai CY; Huang CF; Chiou SS; Chuang WL; Yu ML
[Ad] Endereço:Hepatobiliary Division, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
[Ti] Título:Seroprevalence and clinical characteristics of viral hepatitis in transfusion-dependent thalassemia and hemophilia patients.
[So] Source:PLoS One;12(6):e0178883, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND/AIMS: Transfusion dependent subjects are at a great risk of viral hepatitis infection. We aimed to evaluate the prevalence and factors associated with hepatitis B virus (HBV) and hepatitis C virus (HCV) infection among transfusion-dependent patients in Taiwan. METHODS: A total of 140 patients (67 thalassemic patients, 70 hemophilic patients, two patients with hereditary spherocytosis and one patient with von Willebrand disease) were prospectively enrolled to evaluate the prevalence and factors associated with viral hepatitis and spontaneous HCV clearance. All patients were tested for HBV and HCV serology and virology. Two consecutive serum samples, at least 1 year apart, were collected to clarify HCV seroclearance. RESULTS: The seropositivity rate of hepatitis B surface antigen (HBsAg), HCV antibody (anti-HCV), and both HBsAg/anti-HCV were 6.4%, 45.7% and 5%, respectively. Logistic regression analysis of factors associated with anti-HCV seropositivity included age (odds ratio/95% confidence interval [OR/CI]: 1.12/1.07-1.18, P<0.001), serum alanine aminotransferase (ALT) (OR/CI: 1.04/1.02-1.06, P<0.001) and platelet counts (OR/CI: 0.995/0.991-0.998, P = 0.002). Age was the only factor independently associated with HBsAg seropositivity (OR/CI: 1.08/1.02-1.14.4, P = 0.007). Compared to patients born before 1992, the seroprevalence of HCV among thalassemic patients decreased dramatically in those born after 1992 (46.0% vs. 11.8%, p = 0.012). The seroprevalence of HCV among hemophilic patients also decreased significantly when comparing patients born before 1987 to those born after 1987 (79.5% vs. 11.5%, p<0.001). Similarly, the seroprevalence of HBV decreased significantly in the post-vaccination cohort compared to its counterpart (13.1%, vs. 1.3%, p = 0.005). The spontaneous clearance of HCV was observed in 25.4% (15/59) of patients, and ALT was the only factor associated with it (OR/CI 0.98/0.96-1.00, P = 0.02). CONCLUSIONS: Both HBV and HCV infections are prevalent among transfusion-dependent thalassemic and hemophilic patients in Taiwan. Nevertheless, seroprevalence decreased significantly and dramatically for HCV after universal blood screening and for HBV after implementation of a universal mass vaccination program.
[Mh] Termos MeSH primário: Hemofilia A/complicações
Hepatite Viral Humana/epidemiologia
Hepatite Viral Humana/etiologia
Talassemia/complicações
Reação Transfusional
[Mh] Termos MeSH secundário: Adolescente
Adulto
Biomarcadores
Criança
Feminino
Genótipo
Hemofilia A/terapia
Anticorpos Anti-Hepatite B/imunologia
Antígenos de Superfície da Hepatite B/sangue
Antígenos de Superfície da Hepatite B/imunologia
Anticorpos Anti-Hepatite C/imunologia
Hepatite Viral Humana/diagnóstico
Seres Humanos
Interleucinas/genética
Masculino
Meia-Idade
Polimorfismo de Nucleotídeo Único
Estudos Soroepidemiológicos
Talassemia/terapia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Hepatitis B Antibodies); 0 (Hepatitis B Surface Antigens); 0 (Hepatitis C Antibodies); 0 (IL28B protein, human); 0 (Interleukins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170610
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0178883



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