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https://www.readbyqxmd.com/read/28806273/the-changing-landscape-of-gene-editing-in-hematopoietic-stem-cells-a-step-towards-cas9-clinical-translation
#1
Daniel P Dever, Matthew H Porteus
PURPOSE OF REVIEW: Since the discovery two decades ago that programmable endonucleases can be engineered to modify human cells at single nucleotide resolution, the concept of genome editing was born. Now these technologies are being applied to therapeutically relevant cell types, including hematopoietic stem cells (HSC), which possess the power to repopulate an entire blood and immune system. The purpose of this review is to discuss the changing landscape of genome editing in hematopoietic stem cells (GE-HSC) from the discovery stage to the preclinical stage, with the imminent goal of clinical translation for the treatment of serious genetic diseases of the blood and immune system...
August 12, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28777854/-a-novel-double-heterozygote-of-hbb-c-219t-a-220g-t-gene-diagnosis-and-pedigree-analysis
#2
Jiezhong Lv, Zhaofan Luo, Jianpei Fang, Tao Du, Hongman Xue, Yong Liu, Jianping Zhang
OBJECTIVE: To identify a novel hemoglobinopathy applied by direct sequencing and clone sequencing. METHODS: EDTA anticoagulated blood of proband and his parents were analyzed by hematology analyzers and Capillarys hemoglobin electrophoresis (CE). Then thalassemia genetypes were screened by gap-PCR and reverse dot blot (RDB). Proband was suspected with abnormal hemoglobin combine alpha beta compound thalassemia. The mutation of beta-globin was identified by direct sequencing and clone sequencing...
August 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28766840/high-birth-prevalence-of-sickle-cell-disease-in-northwestern-tanzania
#3
Emmanuela E Ambrose, Julie Makani, Neema Chami, Tulla Masoza, Rogatus Kabyemera, Robert N Peck, Erasmus Kamugisha, Alphaxard Manjurano, Neema Kayange, Luke R Smart
BACKGROUND: Worldwide, hemoglobinopathies affect millions of children. Identification of hemoglobin disorders in most sub-Saharan African countries is delayed until clinical signs of the disease are present. Limited studies have been conducted to understand their prevalence and clinical presentation among newborns in resource-limited settings. METHODOLOGY: This was a prospective cohort study. Newborns (aged 0-7 days) at two hospitals in Northwestern Tanzania were enrolled and followed prospectively for 6 months...
August 2, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28759700/interventions-for-treating-intrahepatic-cholestasis-in-people-with-sickle-cell-disease
#4
REVIEW
Arturo J Martí-Carvajal, Cristina Elena Martí-Amarista
BACKGROUND: Sickle cell disease is the most common hemoglobinopathy occurring worldwide and sickle cell intrahepatic cholestasis is a complication long recognized in this population. Cholestatic liver diseases are characterized by impaired formation or excretion (or both) of bile from the liver. There is a need to assess the clinical benefits and harms of the interventions used to treat intrahepatic cholestasis in people with sickle cell disease. This is an update of a previously published Cochrane Review...
July 31, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28757383/indications-and-outcome-of-splenectomy-in-hematologic-disease
#5
S Bonnet, A Guédon, J-A Ribeil, F Suarez, J Tamburini, S Gaujoux
Splenectomy is part of the therapeutic arsenal for benign or malignant hematological disorders that constitute the main indication for elective splenectomy. With the development of minimally invasive approaches, and in particular, laparoscopy, as well as the advent of monoclonal antibody therapy, the indications and the outcomes of splenectomy for hematologic disease have changed in recent years. Nonetheless, splenectomy has its place in hemoglobinopathies and hemolytic diseases, improves thrombocytopenia in refractory immune thrombocytopenic purpura, can reverse sequelae linked to voluminous splenomegaly secondary to myelofibrosis, or can be used for diagnostic purposes or for splenomegaly in lymphoproliferative syndromes...
July 27, 2017: Journal of Visceral Surgery
https://www.readbyqxmd.com/read/28751324/a-primed-hemoglobinopathy-screen
#6
Joesph R Wiencek, Garrett S Booth, James H Nichols
No abstract text is available yet for this article.
August 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28743307/hemoglobin-himeji-and-inconsistent-hemoglobin-a1c-values-a-case-report
#7
Vânia Guedes, Rita Bettencourt-Silva, Joana Queirós, Maria da Luz Esteves, Maria José Teles, Davide Carvalho
BACKGROUND: Hemoglobin A1c is used to evaluate the glycemic control in patients with diabetes and is a risk marker for chronic complications of diabetes. Hemoglobin variants are reported to falsely lower or increase hemoglobin A1c test results. We present a case report of a patient with diabetes with discrepancy between fasting plasma glucose and hemoglobin A1c due to the presence of hemoglobin Himeji, a clinically silent and very rare hemoglobinopathy. CASE PRESENTATION: A 76-year-old white woman, born and living in Portugal, with type 2 diabetes presented to the family physician for a routine visit...
July 26, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28716439/renal-cell-carcinoma-unclassified-with-medullary-phenotype-poorly-differentiated-adenocarcinomas-overlapping-with-renal-medullary-carcinoma
#8
Deepika Sirohi, Steven C Smith, Chisato Ohe, Piergiuseppe Colombo, Mukul Divatia, Ema Dragoescu, Priya Rao, Michelle S Hirsch, Ying-Bei Chen, Rohit Mehra, Mahul B Amin
Renal medullary carcinoma (RMC) is a highly aggressive renal cell carcinoma, arising in the collecting system, and requiring careful correlation with status of sickle cell trait. A panel of international experts has recently proposed provisional diagnostic terminology, renal cell carcinoma, unclassified, with medullary phenotype (RCCU-MP), based on encountering an extraordinarily rare tumor with RMC morphology and immunophenotype in an individual proven not to have a hemoglobinopathy. Herein, we extend this observation to a cohort of five such tumors, morphologically similar to RMC, lacking SMARCB1 expression by immunohistochemistry, but each without evidence of a hemoglobinopathy...
July 14, 2017: Human Pathology
https://www.readbyqxmd.com/read/28699985/glycated-albumin-a-potential-biomarker-in-diabetes
#9
Priscila Aparecida Correa Freitas, Lethicia Rozales Ehlert, Joíza Lins Camargo
Diabetes mellitus (DM) is a chronic and metabolic disease that presents a high global incidence. Glycated hemoglobin (A1C) is the reference test for long-term glucose monitoring, and it exhibits an association with diabetic chronic complications. However, A1C is not recommended in clinical situations which may interfere with the metabolism of hemoglobin, such as in hemolytic, secondary or iron deficiency anemia, hemoglobinopathies, pregnancy, and uremia. The glycated albumin (GA) is a test that reflects short-term glycemia and is not influenced by situations that falsely alter A1C levels...
May 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28698843/diagnostic-approaches-for-inherited-hemolytic-anemia-in-the-genetic-era
#10
REVIEW
Yonggoo Kim, Joonhong Park, Myungshin Kim
Inherited hemolytic anemias (IHAs) are genetic diseases that present with anemia due to the increased destruction of circulating abnormal RBCs. The RBC abnormalities are classified into the three major disorders of membranopathies, hemoglobinopathies, and enzymopathies. Traditional diagnosis of IHA has been performed via a step-wise process combining clinical and laboratory findings. Nowadays, the etiology of IHA accounts for germline mutations of the responsible genes coding for the structural components of RBCs...
June 2017: Blood Research
https://www.readbyqxmd.com/read/28697319/renal-medullary-carcinoma-establishing-standards-in-practice
#11
Kathryn E Beckermann, Deva Sharma, Shruti Chaturvedi, Pavlos Msaouel, Miguel R Abboud, Yves Allory, Franck Bourdeaut, Julien Calderaro, Aguirre A de Cubas, Vimal K Derebail, Andrew L Hong, Rakhi P Naik, Gabriel G Malouf, Elizabeth A Mullen, Victor E Reuter, Charles W M Roberts, Cheryl L Walker, Christopher G Wood, Michael R DeBaun, Hendrik Van Poppel, Nizar M Tannir, W Kimryn Rathmell
Although renal medullary carcinoma (RMC) is a rare subtype of kidney cancer, it is particularly devastating in that it is nearly uniformly lethal. No established guidelines exist for the diagnosis and management of RMC. In April 2016, a panel of experts developed clinical guidelines on the basis of a literature review and consensus statements. The goal was to propose recommendations for standardized diagnostic and management approaches and to establish an international clinical registry and biorepository for RMC...
July 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28692818/establishing-an-autologous-versus-allogeneic-hematopoietic-cell-transplant-program-in-nations-with-emerging-economies
#12
REVIEW
Naeem A Chaudhri, Mahmoud Aljurf, Fahad I Almohareb, Hazzaa A Alzahrani, Qaiser Bashir, Bipin Savani, Vikas Gupta, Shahrukh K Hashmi
More than 70,000 hematopoietic cell transplants are currently performed each year, and these continue to increase every year. However, there is a significant variation in the number of absolute transplants and transplant rates between centers, countries, and global regions. The prospect for emerging countries to develop a hematopoietic cell transplantation (HCT) program, as well as to decide on whether autologous HCT (auto-HCT) or allogeneic HCT (allo-HCT) should be established to start with, relies heavily on factors that can explain differences between these two procedures...
July 3, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28689245/imaging-of-renal-medullary-carcinoma-in-children-and-young-adults-a-report-from-the-children-s-oncology-group
#13
Jesse K Sandberg, Elizabeth A Mullen, Mariana M Cajaiba, Ethan A Smith, Sabah Servaes, Elizabeth J Perlman, James I Geller, Peter F Ehrlich, Nicholas G Cost, Jeffrey S Dome, Conrad V Fernandez, Geetika Khanna
BACKGROUND: Renal medullary carcinoma is a rare renal malignancy of childhood. There are no large series describing the imaging appearance of renal medullary carcinoma in children. OBJECTIVE: To characterize the clinical and imaging features of pediatric renal medullary carcinoma at initial presentation. MATERIALS AND METHODS: We retrospectively analyzed images of 25 pediatric patients with renal medullary carcinoma enrolled in the Children's Oncology Group renal tumors classification, biology and banking study (AREN03B2) from March 2006 to August 2016...
July 8, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28683515/profile-of-reproductive-issues-associated-with-different-sickle-cell-disease-genotypes
#14
Flávia Anchielle Carvalho, Ariani Impieri Souza, Ana Laura Carneiro Gomes Ferreira, Simone da Silva Neto, Ana Carolina Pessoa de Lima Oliveira, Maria Luiza Rodrigues Pinheiro Gomes, Manuela Freire Hazin Costa
Purpose To describe the reproductive variables associated with different sickle cell disease (SCD) genotypes and the influence of contraceptive methods on acute painful episodes among the women with the homozygous hemoglobin S (HbSS) genotype. Methods A cross-sectional study was conducted between September of 2015 and April of 2016 on 158 women afflicted with SCD admitted to a hematology center in the Northeast of Brazil. The reproduction-associated variables of different SCD genotypes were assessed using the analysis of variance (ANOVA) test to compare means, and the Kruskal-Wallis test to compare medians...
August 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28675906/early-evaluation-of-the-fetal-heart
#15
Edgar Hernandez-Andrade, Manasi Patwardhan, Mónica Cruz-Lemini, Suchaya Luewan
Evaluation of the fetal heart at 11-13 + 6 weeks of gestation is indicated for women with a family history of congenital heart defects (CHD), a previous child with CDH, or an ultrasound finding associated with cardiac anomalies. The accuracy for early detection of CHD is highly related to the experience of the operator. The 4-chamber view and outflow tracts are the most important planes for identification of an abnormal heart, and can be obtained in the majority of fetuses from 11 weeks of gestation onward...
July 5, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28673501/management-of-iron-overload-in-hemoglobinopathies
#16
S Allali, M de Montalembert, V Brousse, M Chalumeau, Z Karim
Hemoglobinopathies, thalassemia and sickle cell disease are among the most frequent monogenic diseases in the world. Transfusion has improved dramatically their prognosis, but provokes iron overload, which induces multiple organ damages. Iron overload is related to accumulation of iron released from hemolysis and transfused red cell, but also, in thalassemic patients, secondary to ineffective erythropoiesis, which increases intestinal iron absorption via decreased hepcidin production. Transfusion-related cardiac iron overload remains a main cause of death in thalassemia in well-resourced countries, and is responsible for severe hepatic damages in sickle cell disease...
June 30, 2017: Transfusion Clinique et Biologique: Journal de la Société Française de Transfusion Sanguine
https://www.readbyqxmd.com/read/28671437/expanded-newborn-screening-information-and-resources-for-the-family-physician
#17
REVIEW
David Glenn Weismiller
Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34 core conditions that should be incorporated into screening programs, each state manages, funds, and maintains its own program. State programs encompass screening, as well as the diagnosis and coordination of care for newborns with positive findings. Testing for core disorders is fairly standardized, but more extensive screening varies widely by state, and the rigorous evaluation of new screening panels is ongoing...
June 1, 2017: American Family Physician
https://www.readbyqxmd.com/read/28669403/a-genetic-variant-ameliorates-%C3%AE-thalassemia-severity-by-epigenetic-mediated-elevation-of-human-fetal-hemoglobin-expression
#18
Diyu Chen, Yangjin Zuo, Xinhua Zhang, Yuhua Ye, Xiuqin Bao, Haiyan Huang, Wanicha Tepakhan, Lijuan Wang, Junyi Ju, Guangfu Chen, Mincui Zheng, Dun Liu, Shuodan Huang, Lu Zong, Changgang Li, Yajun Chen, Chenguang Zheng, Lihong Shi, Quan Zhao, Qiang Wu, Supan Fucharoen, Cunyou Zhao, Xiangmin Xu
A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential cis-variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing of 1142 Chinese β-thalassemia persons and identified 31 fetal hemoglobin (HbF)-associated haplotypes of the selected 28 tag regulatory single-nucleotide polymorphisms (rSNPs) in seven linkage disequilibrium (LD) blocks...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28666103/kuwait-bone-marrow-transplantation-activities
#19
REVIEW
Salem H Alshemmar, Reem Ameen
Kuwait is located in the Arabian Gulf and has a population of 3.5million. The stem cell transplantation program started in 2000. Autologous peripheral blood stem cell transplantation started first, as it was easier technically to establish. In 2011, the allogeneic program started with focus on acute leukemia and hemoglobinopathies. The success of both programs required teamwork and support of health planners. We are in the process of establishing a bone marrow donor registry. The issue of donor availability and drug shortage remain the two main obstacles for expanding the bone marrow transplantation program...
June 22, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28659276/klf1-drives-the-expression-of-fetal-hemoglobin-in-british-hpfh
#20
Beeke Wienert, Gabriella E Martyn, Ryo Kurita, Yukio Nakamura, Kate G R Quinlan, Merlin Crossley
β-Hemoglobinopathies are among the most common single-locus inherited diseases. In this condition, high fetal hemoglobin (HbF) levels have been found to be beneficial, and boosting HbF expression is seen as an attractive therapy. Naturally occurring mutations in the fetal globin promoter can result in high HbF persisting into adulthood in a benign condition known as hereditary persistence of fetal hemoglobin (HPFH). Individuals with one form of HPFH, British HPFH, carry a T to C substitution at position -198 of the fetal globin gene promoter...
August 10, 2017: Blood
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