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inheritance of blood groups

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https://www.readbyqxmd.com/read/28672087/interventions-for-chronic-kidney-disease-in-people-with-sickle-cell-disease
#1
REVIEW
Noemi Ba Roy, Patricia M Fortin, Katherine R Bull, Carolyn Doree, Marialena Trivella, Sally Hopewell, Lise J Estcourt
BACKGROUND: Sickle cell disease (SCD) is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta-globin) genes. SCD can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Kidney disease is a frequent and potentially severe complication in people with SCD.Chronic kidney disease is defined as abnormalities of kidney structure or function, present for more than three months. Sickle cell nephropathy refers to the spectrum of kidney complications in SCD...
July 3, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28669707/a-multiplex-arms-pcr-approach-to-detection-of-common-%C3%AE-globin-gene-mutations
#2
Kanchan K Mishra, Parizad Patel, Dipal S Bhukhanvala, Avani Shah, Kanjaksha Ghosh
BACKGROUND: β-thalassaemia is a group of inherited single-gene disorders worldwide. Each ethnic population has its own common mutations. Heterogeneity of β-thalassaemia mutations in multi-ethnic population of Surat, makes molecular diagnosis expensive and time consuming. METHODS: Specific primers were used to differentiate four common mutations, IVS I-5 (G→C), Codon 41/42 (- TCTT), 619-bp deletion and FS 8/9 (+G), by a simple PCR involving a multiplex amplification refractory mutation system...
June 29, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28655553/variant-discovery-in-patients-with-mendelian-vascular-anomalies-by-next-generation-sequencing-and-their-use-in%C3%A2-patient-clinical-management
#3
Raul Mattassi, Elena Manara, Pier Giuseppe Colombo, Sofia Manara, Antonella Porcella, Giulia Bruno, Alice Bruson, Matteo Bertelli
OBJECTIVE: An accurate "molecular" diagnosis and classification of similar but distinct diseases is sometime challenging but often crucial for the definition of the appropriate patient medical management and treatment as well as for genetic counseling and risk assessment in families. The advent of next-generation sequencing (NGS), which analysed all known disease-associated genes in parallel in a cost- and time-effective manner, eased this process of disease definition and also for vascular anomalies that are a heterogeneous group of vascular tumors and congenital circulatory malformations and often characterized by overlapping phenotypes...
June 24, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#4
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28619735/the-evolving-role-of-succinate-in-tumor-metabolism-an-18-f-fdg-based-study
#5
Philippe Garrigue, Aurore Bodin-Hullin, Laure Balasse, Samantha Fernandez, Wassim Essamet, Françoise Dignat-George, Karel Pacak, Benjamin Guillet, David Taieb
Objective: In recent years, inherited and acquired mutations in the TCA cycle enzymes have been reported in diverse cancers. Pheochromocytomas and paragangliomas (PPGLs) often exhibit dysregulation of glucose metabolism which is also driven by mutations in genes encoding the TCA cycle enzymes or by activation of hypoxia signaling. PPGLs associated with succinate dehydrogenase (SDH) deficiency are characterized by high (18)F-fluorodeoxyglucose ([(18)F]-FDG) avidity. This association is currently only partially explained...
June 15, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28574019/k-time-maximum-amplitude-of-thromboelastogram-predict-post-central-venous-cannulation-bleeding-in-patients-with-cirrhosis-a-pilot-study
#6
Chandra K Pandey, Vandana Saluja, Kumar Gaurav, Manish Tandon, Vijay K Pandey, Ajeet S Bhadoria
BACKGROUND & OBJECTIVES: Coagulation and haemostasis are dynamic processes. The haemostatic changes in liver disease affect all aspects of coagulation. The prothrombin time (PT)/ international normalized ratio (INR) was developed to monitor oral anticoagulant therapy and the activated partial thromboplastin time to investigate inheritable single factor deficiencies. Viscoelastic tests such as thromboelastogram (TEG) give information about dynamics of clot formation (coagulation factor and anticoagulant activity), clot strength (platelets and fibrinogen) and clot stability (finbrinolysis and factor XIII)...
January 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28572916/ipscs-are-safe
#7
Hualong Yan, Yun-Bo Shi, Jing Huang
Induced pluripotent stem cells (iPSCs) hold great promises in cell therapy. However, the potential safety issues have dampened the enthusiasm of their clinical development. One of the biggest concerns came from the observations that genomic alterations exist in iPSCs. Using next generation sequencing of clonal skin fibroblasts and the iPSC clones derived from the same skin fibroblasts, Dr. Liu and his colleagues in the National Human Genome Research Institute, National Institutes of Health (NIH), USA, in collaboration with Dr...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28540073/viscoelastic-testing-inside-and-beyond-the-operating-room
#8
REVIEW
Liang Shen, Sheida Tabaie, Natalia Ivascu
Hemorrhage is a major contributor to morbidity and mortality during the perioperative period. Current methods of diagnosing coagulopathy have various limitations including long laboratory runtimes, lack of information on specific abnormalities of the coagulation cascade, lack of in vivo applicability, and lack of ability to guide the transfusion of blood products. Viscoelastic testing offers a promising solution to many of these problems. The two most-studied systems, thromboelastography (TEG) and rotational thromboelastometry (ROTEM), offer similar graphical and numerical representations of the initiation, formation, and lysis of clot...
April 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28533057/late-effects-screening-guidelines-after-hematopoietic-cell-transplantation-for-inherited-bone-marrow-failure-syndromes-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international-conference-on-late-effects-after-pediatric
#9
REVIEW
Andrew C Dietz, Sharon A Savage, Adrianna Vlachos, Parinda A Mehta, Dorine Bresters, Jakub Tolar, Carmem Bonfim, Jean Hugues Dalle, Josu de la Fuente, Roderick Skinner, Farid Boulad, Christine N Duncan, K Scott Baker, Michael A Pulsipher, Jeffrey M Lipton, John E Wagner, Blanche P Alter
Patients with inherited bone marrow failure syndromes (IBMFS), such as Fanconi anemia (FA), dyskeratosis congenita (DC), or Diamond Blackfan anemia (DBA), can have hematologic manifestations cured through hematopoietic cell transplantation (HCT). Subsequent late effects seen in these patients arise from a combination of the underlying disease, the pre-HCT therapy, and the HCT process. During the international consensus conference sponsored by the Pediatric Blood and Marrow Transplant Consortium on late effects screening and recommendations following allogeneic hematopoietic cell transplantation for immune deficiency and nonmalignant hematologic diseases held in Minneapolis, Minnesota in May 2016, a half-day session was focused specifically on the unmet needs for these patients with IBMFS...
May 19, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28525341/morphological-analysis-of-testicles-in-cats-with-disorders-of-sex-development
#10
S Dzimira, W Nizanski, J A Madej
Disorders of sex development (DSD) are rare in cats. They can be caused by chromosomal aberrations, gene mutations or other undefined factors. The aim of the present study was to compare the histological structure and immunohistochemical reactivity of testes in cats with DSD and in healthy cats. The research material consisted of the gonads of four cats - phenotypic males with an incorrect structure of the reproductive system. The control group consisted of the testes of four healthy cats - routinely castrated phenotypical males...
March 28, 2017: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28511303/-association-of-xrcc1-gene-polymorphism-and-low-dose-ionizing-radiation-with-peripheral-blood-lymphocyte-micronucleus
#11
F Yang, P Xiong, X L Yuan, C R Liu, L J Ran, Y Yang, J Y Li
Objective: To explore the effects of X-ray repair cross complementing gene 1 (XRCC1) polymorphism and low dose ionizing radiation exposure on radiology professionals' peripheral blood lymphocyte micronucleus. Methods: A matched case-control study was designed. From 2013 to 2015, 1 102 radiology professionals with micronucleus test rusults, and 45 cases with present micronucleus were enroled into case group. 180 diagnostic radiology technicians detecting no micronucleus were chosen as control group, cases and controls were 1∶4 mached on gender, age ≤40 or >40 years old...
March 20, 2017: Chinese Journal of Industrial Hygiene and Occupational Diseases
https://www.readbyqxmd.com/read/28508341/mitochondrial-dna-levels-in-huntington-disease-leukocytes-and-dermal-fibroblasts
#12
Paulina Jędrak, Magdalena Krygier, Katarzyna Tońska, Małgorzata Drozd, Magdalena Kaliszewska, Ewa Bartnik, Witold Sołtan, Emilia J Sitek, Anna Stanisławska-Sachadyn, Janusz Limon, Jarosław Sławek, Grzegorz Węgrzyn, Sylwia Barańska
Huntington disease (HD) is an inherited neurodegenerative disorder caused by mutations in the huntingtin gene. Involvement of mitochondrial dysfunctions in, and especially influence of the level of mitochondrial DNA (mtDNA) on, development of this disease is unclear. Here, samples of blood from 84 HD patients and 79 controls, and dermal fibroblasts from 10 HD patients and 9 controls were analysed for mtDNA levels. Although the type of mitochondrial haplogroup had no influence on the mtDNA level, and there was no correlation between mtDNA level in leukocytes in HD patients and various parameters of HD severity, some considerable differences between HD patients and controls were identified...
May 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28500860/interventions-for-preventing-silent-cerebral-infarcts-in-people-with-sickle-cell-disease
#13
REVIEW
Lise J Estcourt, Patricia M Fortin, Sally Hopewell, Marialena Trivella, Carolyn Doree, Miguel R Abboud
BACKGROUND: Sickle cell disease (SCD) is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. SCD can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Silent cerebral infarcts are the commonest neurological complication in children and probably adults with SCD. Silent cerebral infarcts also affect academic performance, increase cognitive deficits and may lower intelligence quotient...
May 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28484290/cardiac-structural-and-functional-changes-evaluated-by-transthoracic-and-tissue-doppler-echocardiography-in-adult-patients-with-sickle-cell-disease
#14
Mojdeh Dabirian, Ghasem Janbabaei, Hossein Karami, Maryam Nabati, Mohsen Aarabi, Morteza Namazi, Hadi Darvishi-Khezri
One of the most common genetic blood disorders, resulting from inherited red blood cell disorders, is sickle cell disease (SCD) which is responsible for high death in adult patients with left ventricular diastolic dysfunction and pulmonary hypertension. Tissue Doppler Echocardiography (TDE) and transthoracic echocardiography (TTE) are two useful tools to assess the risk of SCD. The present study was conducted to evaluate the cardiac functions and structure using TDE and TTE among adult patients suffering from sickle cell anemia compare to normal samples...
March 2017: Acta Informatica Medica: AIM
https://www.readbyqxmd.com/read/28473773/analyses-of-mmp20-missense-mutations-in-two-families-with-hypomaturation-amelogenesis-imperfecta
#15
Youn Jung Kim, Jenny Kang, Figen Seymen, Mine Koruyucu, Koray Gencay, Teo Jeon Shin, Hong-Keun Hyun, Zang Hee Lee, Jan C-C Hu, James P Simmer, Jung-Wook Kim
Amelogenesis imperfecta is a group of rare inherited disorders that affect tooth enamel formation, quantitatively and/or qualitatively. The aim of this study was to identify the genetic etiologies of two families presenting with hypomaturation amelogenesis imperfecta. DNA was isolated from peripheral blood samples obtained from participating family members. Whole exome sequencing was performed using DNA samples from the two probands. Sequencing data was aligned to the NCBI human reference genome (NCBI build 37...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28456989/methods-for-determination-of-%C3%AE-glycosidase-%C3%AE-glycosidase-and-%C3%AE-galactosidase-activities-in-dried-blood-spot-samples
#16
Eser Yıldırım Sozmen, Ebru Demirel Sezer
The lysosomal storage diseases (LDSs) are a heterogeneous group of inherited genetic disorders caused by defects of lysosomal proteins. The accumulation of undigested substrates from different catabolic pathways leads to cellular dysfunction. LSDs generally presents during early childhood and have a devastating impact on the families and on public health. Over the years, approaches for treatment of some LSDs have been developed with different strategies. Increasing availability of treatments of these diseases has accelerated the development of new methods and techniques for rapid diagnosis in patients with clinical indication...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28451866/the-116g%C3%A2-%C3%A2-a-msh6-and-ivs1-1121c%C3%A2-%C3%A2-t-pms2-genes-polymorphisms-modulate-the-risk-of-the-sporadic-colorectal-cancer-development-in-polish-population
#17
Piotr Zelga, Karolina Przybyłowska-Sygut, Marta Zelga, Adam Dziki, Ireneusz Majsterek
Colorectal cancer (CRC) is one of the most common cancers worldwide. DNA mismatch repair (MMR) is an evolutionarily conserved process that corrects mismatches generated during DNA replication. MMR defects were found to be associated with hereditary non-polyposis colorectal cancer (HNPCC) and a subset of sporadic colon cancers. The inheritance of common variations in MMR genes may influences individual susceptibility to the development of colorectal cancer. The purpose of the study was to evaluate the association between gene polymorphisms Glu39Gly (c...
April 27, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28450662/comparative-serological-investigation-between-cat-and-tiger-blood-for-transfusion
#18
Naris Thengchaisri, Chayakrit Sinthusingha, Surapong Arthitwong, Panpicha Sattasathuchana
Evidence suggests that non-domesticated felids inherited the same AB-erythrocyte antigens as domestic cats. To study the possible compatibility of tiger blood with that of other endangered felidae, blood samples from captive tigers and domestic cats were subjected to an in vitro study. The objectives of this study were to (1) identify whether the captive tigers had blood type AB and (2) determine the compatibility between the blood of captive tigers and that of domestic cats with a similar blood type. The anti-coagulated blood with ethylenediaminetetraacetic acid of 30 tigers was examined to determine blood type, and a crossmatching test was performed between tiger and cat blood...
June 29, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28445187/the-effects-of-inherited-nudt15-polymorphisms-on-thiopurine-active-metabolites-in-japanese-children-with-acute-lymphoblastic-leukemia
#19
Takaya Moriyama, Rina Nishii, Ting-Nien Lin, Kentaro Kihira, Hidemi Toyoda, Nersting Jacob, Motohiro Kato, Katsuyoshi Koh, Hiroto Inaba, Atsushi Manabe, Kjeld Schmiegelow, Jun J Yang, Hiroki Hori
Thiopurines [e.g. mercaptopurine (MP)] are widely used as chemotherapeutic agents in the treatment of pediatric acute lymphoblastic leukemia with dose-limiting hematopoietic toxicity. Recently, germline variants in NUDT15 have been identified as a major genetic cause for MP-related bone marrow suppression, and there is increasing interest in the clinical implementation of NUDT15 genotype-guided MP dose individualization. Therefore, we sought to evaluate the effects of NUDT15 on thiopurine metabolism and identify pharmacologic markers to inform NUDT15 genotype-guided MP dosing...
June 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28444876/cataracts-in-a-population-of-bengal-cats-in-france
#20
Aurélie Bourguet, Gilles Chaudieu, Alice Briatta, Alexandre Guyonnet, Marie Abitbol, Sabine Chahory
OBJECTIVE: To document the clinical appearance and prevalence of cataracts in a French population of Bengal cats. METHODS: Two distinct populations of Bengal cats were examined as follows: (i) 51 animals recruited for evaluation of national prevalence of ocular diseases in an observational study conducted between October 2014 and November 2016 at the Alfort ophthalmology unit; (ii) 12 patients referred for cataract diagnosis examined at a veterinary eye clinic located in central France, between December 2014 and February 2016...
April 25, 2017: Veterinary Ophthalmology
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