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Hemoglobinopathies

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https://www.readbyqxmd.com/read/28716439/renal-cell-carcinoma-unclassified-with-medullary-phenotype-poorly-differentiated-adenocarcinomas-overlapping-with-renal-medullary-carcinoma
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
July 6, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28675906/early-evaluation-of-the-fetal-heart
#8
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
#9
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
#10
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
#11
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
#12
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
#13
Beeke Wienert, Gabriella E Martyn, Ryo Kurita, Yukio Nakamura, Kate G R Quinlan, Merlin Crossley
β-hemoglobinopathies are amongst the most common single locus inherited diseases. In this condition high fetal hemoglobin (HbF) levels have been found to be beneficial and boosting fetal hemoglobin 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...
June 28, 2017: Blood
https://www.readbyqxmd.com/read/28641501/hematological-characterizations-and-molecular-diagnostic-aspects-of-hb-wiangpapao-%C3%AE-44-ce2-pro%C3%A2-ser-%C3%AE-1-ccg-tcg-hba1-c-133c-t-a-new-%C3%AE-globin-variant-found-in-a-pregnant-thai-woman
#14
Sitthichai Panyasai, Sakorn Pornprasert
We report the hematological parameters and provide a rapid molecular analysis method for detection of Hb Wiangpapao [α44(CE2)Pro→Ser, CCG>TCG; HBA1: c.133C>T], a new α-globin variant found in a pregnant Thai woman. Her red cell indices were measured by an automated blood counter. The results were: red blood cell (RBC) count 4.03 × 10(12)/L, Hb 13.1 (g/dL), packed cell volume (PCV) 0.39 L/L, mean corpuscular volume (MCV) 97.0 fL, mean corpuscular hemoglobin (Hb) (MCH) 32.5 pg, mean corpuscular Hb concentration (MCHC) 33...
March 2017: Hemoglobin
https://www.readbyqxmd.com/read/28615064/anti-toxoplasma-gondii-antibodies-in-patients-with-beta-hemoglobinopathies-the-first-report-in-the-americas
#15
Marina Neves Ferreira, Claudia Regina Bonini-Domingos, Isabeth Fonseca Estevão, Clarice Lopes de Castro Lobo, Gisele Cristina Souza Carrocini, Aparecida Perpétuo Silveira-Carvalho, Octávio Ricci, Luiz Carlos de Mattos, Cinara Cássia Brandão de Mattos
BACKGROUND: In Brazil, there have been no previous studies of Toxoplasma gondii infection in sickle cell anemia patients and carriers of severe forms of beta-thalassemia. This study evaluated T. gondii infection in patients with beta-hemoglobinopathies. METHODS: A total of 158 samples, 77 (48.7%) men and 81 (51.3%) women, were evaluated. Three groups were formed: G1 (85 patients with sickle cell disease); G2 (11 patients with homozygous beta-thalassemia; G3 (62 patients with heterozygous beta-thalassemia)...
June 14, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28605432/molecular-diagnosis-of-thalassemias-and-hemoglobinopathies-an-aclps-critical-review
#16
Daniel E Sabath
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...
June 12, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28602890/posterior-reversible-encephalopathy-syndrome-after-hematopoietic-cell-transplantation-in-children-with-hemoglobinopathies
#17
Javid Gaziev, Simone Marziali, Katia Paciaroni, Antonella Isgrò, Francesca Di Giuliano, Giorgia Rossi, Marco Marziali, Gioia De Angelis, Cecilia Alfieri, Michela Ribersani, Marco Andreani, Maria Giuseppina Palmieri, Fabio Placidi, Andrea Romigi, Francesca Izzi, Roberto Floris, Nicola Biagio Mercuri
Posterior reversible encephalopathy syndrome (PRES) is a serious adverse event associated with calcineurin inhibitors used for graft-versus-host disease (GVHD) prophylaxis. We compared the incidence of PRES in children with thalassemia (n = 222, 1.4 to 17.8 years old) versus sickle cell disease (SCD; n = 59, 2 to 17 years old) who underwent hematopoietic cell transplantation from HLA-matched siblings or alternative donors and analyzed the risk factors for PRES. Overall, 31 children developed calcineurin inhibitor-related PRES (11%), including 30 patients with seizures and 1 patient without seizures...
July 3, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28596657/increased-level-of-factor-viii-and-physiological-inhibitors-of-coagulation-in-patients-with-sickle-cell-disease
#18
Mohamed Chekkal, Mohamed Chakib Arslane Rahal, Khedidja Moulasserdoun, Fatima Seghier
Sickle cell disease (SCD) is a hemoglobinopathy characterized by hemolysis, oxidative stress, and vaso-occlusive crises. Thromboembolism also remains a serious complication and probably underestimated in the SCD. Our objective was to seek the existence of hemostasis abnormalities that predispose to thrombosis such as elevation of FVIII and Physiological inhibitors of coagulation deficiency. We studied 81 patients with SCD, including 32 homozygous S/S, 20 double heterozygous S/β thalassemia and 29 heterozygous S/A...
June 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/28588857/hemoglobin-titusville-a-rare-low-oxygen-affinity-hemoglobinopathy
#19
Senan John Yasar, Vivian Irene Ravn Berg, Asim Ahmad, Donald Doll
The relevance of this case lies in the extensive diagnostic workup that can be avoided with proper laboratory evaluation of relatively unsophisticated tests.
June 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28543614/capillarys-2-flex-piercing-analytical-performance-assessment-according-to-clsi-protocols-for-hba1c-quantification
#20
Radhouene Doggui, Chaïma Abdelhafidh Sahli, Wassef Lotfi Aissa, Maroua Hammami, Maha Ben Sedrine, Rahma Mahjoub, Khemais Zouaoui, Rim Daboubi, Hajer Siala, Taieb Messaoud, Amina Bibi
HbA1c is used for monitoring diabetic balance. In this paper we report an assessment of the analytical performances of Capillarys 2 Flex Piercing (C2FP) for HbA1c measurement using CE (Capillary Electrophoresis). CLSI (Clinical and Laboratory Standard Institute) protocols are used for the evaluation of apparatus performances: precision, linearity, method comparison, truness and common interferences. HbA1c CVs average in intra-assay was 1.6% between run imprecision CV ranged from0.1 to 1.8%. The linearity was demonstrated between 4...
May 19, 2017: Electrophoresis
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