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inheritance of blood types

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https://www.readbyqxmd.com/read/29346445/transcriptome-analysis-of-skin-fibroblasts-with-dominant-negative-col3a1-mutations-provides-molecular-insights-into-the-etiopathology-of-vascular-ehlers-danlos-syndrome
#1
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi
Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain that through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures...
2018: PloS One
https://www.readbyqxmd.com/read/29310826/changes-in-v-atpase-subunits-of-human-urinary-exosomes-reflect-the-renal-response-to-acute-acid-alkali-loading-and-the-defects-in-distal-renal-tubular%C3%A2-acidosis
#2
Ganesh Pathare, Nasser A Dhayat, Nilufar Mohebbi, Carsten A Wagner, Ion A Bobulescu, Orson W Moe, Daniel G Fuster
In the kidney, final urinary acidification is achieved by V-ATPases expressed in type A intercalated cells. The B1 subunit of the V-ATPase is required for maximal urinary acidification, while the role of the homologous B2 subunit is less clear. Here we examined the effect of acute acid/alkali loading in humans on B1 and B2 subunit abundance in urinary exosomes in normal individuals and of acid loading in patients with distal renal tubular acidosis (dRTA). Specificities of B1 and B2 subunit antibodies were verified by yeast heterologously expressing human B1 and B2 subunits, and murine wild-type and B1-deleted kidney lysates...
January 6, 2018: Kidney International
https://www.readbyqxmd.com/read/29302811/gene-expression-analysis-in-peripheral-blood-cells-of-patients-with-hereditary-leiomyomatosis-and-renal-cell-cancer-syndrome-hlrcc-identification-of-nrf2-pathway-activation
#3
Carolina Arenas Valencia, Liliana Lopez Kleine, Andres M Pinzon Velasco, Andrea Y Cardona Barreto, Clara E Arteaga Diaz
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare disease that is inherited in an autosomal dominant manner. Affected patients may develop from cutaneous and uterine leiomyomas to type 2 papillary renal cell carcinoma (Schmidt and Linehan, Int J Nephrol Renovasc Dis 7:253-260, 2014). HLRCC is caused by germline mutations in the FH gene, which produces the fumarate hydratase protein that participates in the tricarboxylic acid cycle during the conversion of fumarate to malate. In FH-deficient cells, high concentrations of fumarate lead to a series of intricate events, which seem to be responsible for the malignant transformation (Yang et al...
January 4, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29296888/a-clinical-audit-of-thrombophilia-testing-in-pediatric-patients-with-acute-thromboembolic-events-impact-on-management
#4
Chakri Gavva, Ravindra Sarode, Ayesha Zia
Routine testing for inherited and acquired thrombophilia defects is frequently performed in pediatric patients with thromboembolic events (TEEs). No consensus guidelines exist regarding the timing of testing or the type of patients to be tested. The primary objective of our study, therefore, was to determine whether thrombophilia testing during the acute TEE setting affected clinical management in pediatric patients. A secondary aim included estimation of potential harm from thrombophilia testing. We retrospectively reviewed data on all pediatric patients diagnosed with a TEE during a 1-year period...
November 28, 2017: Blood Advances
https://www.readbyqxmd.com/read/29251006/prevalence-of-thalassemia-and-glucose-6-phosphate-dehydrogenase-deficiency-in-newborns-and-adults-at-the-ramathibodi-hospital-bangkok-thailand
#5
Wansa Banyatsuppasin, Sumalee Jindadamrongwech, Anchalee Limrungsikul, Punnee Butthep
Thalassemias and glucose-6-phosphate dehydrogenase (G6PD) deficiency are the most common inherited blood disorders. They are distributed among populations living in malaria endemic regions resulting in survival advantage from severe malaria disease. The aims of this study were to analyze the prevalence of thalassemias and G6PD deficiency at the Ramathibodi Hospital, Bangkok, Thailand. A total of 616 adult and 174 cord blood samples were collected and analyzed for red blood cell (RBC) parameters, hemoglobin (Hb) typing and DNA analysis for G6PD mutations and α-thalassemia (α-thal)...
December 18, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29237689/technical-advances-for-the-clinical-genomic-evaluation-of-sudden-cardiac-death-verification-of-next-generation-sequencing-panels-for-hereditary-cardiovascular-conditions-using-formalin-fixed-paraffin-embedded-tissues-and-dried-blood-spots
#6
Linnea M Baudhuin, Charles Leduc, Laura J Train, Rajeswari Avula, Michelle L Kluge, Katrina E Kotzer, Peter T Lin, Michael J Ackerman, Joseph J Maleszewski
BACKGROUND: Postmortem genetic testing for heritable cardiovascular (CV) disorders is often lacking because ideal specimens (ie, whole blood) are not retained routinely at autopsy. Formalin-fixed paraffin-embedded tissue (FFPET) is ubiquitously collected at autopsy, but DNA quality hampers its use with traditional sequencing methods. Targeted next-generation sequencing may offer the ability to circumvent such limitations, but a method has not been previously described. The primary aim of this study was to develop and evaluate the use of FFPET for heritable CV disorders via next-generation sequencing...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29227167/diagnosis-of-platelet-function-disorders-a-standardized-rational-and-modular-flow-cytometric-approach
#7
Oliver Andres, Katja Henning, Gabriele Strauß, Annerose Pflug, Georgi Manukjan, Harald Schulze
A high proportion of patients with mucocutaneous bleeding diathesis and suspected inherited or acquired platelet disorder remain without diagnosis even after comprehensive laboratory testing. Since flow cytometry allows investigation of resting and activated platelets on the single cell level by requiring only minimal amounts of blood, this method has become an important assay within the diagnostic algorithm, especially in pediatrics. We therefore developed a standardized and modular flow cytometric approach that contributes to clarify impaired platelet function in a rational step-by-step manner...
December 11, 2017: Platelets
https://www.readbyqxmd.com/read/29222253/new-monogenic-disorders-identify-more-pathways-to-neutropenia-from-the-clinic-to-next-generation-sequencing
#8
REVIEW
Seth J Corey, Usua Oyarbide
Neutrophils are the most common type of leukocyte in human circulating blood and constitute one of the chief mediators for innate immunity. Defined as a reduction from a normal distribution of values, neutropenia results from a number of congenital and acquired conditions. Neutropenia may be insignificant, temporary, or associated with a chronic condition with or without a vulnerability to life-threatening infections. As an inherited bone marrow failure syndrome, neutropenia may be associated with transformation to myeloid malignancy...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29209277/exenatide-improves-bone-quality-in-a-murine-model-of-genetically-inherited-type-2-diabetes-mellitus
#9
Marie Pereira, Stephanie Gohin, Jean-Paul Roux, Amy Fisher, Mark E Cleasby, Guillaume Mabilleau, Chantal Chenu
Type 2 diabetes mellitus (T2DM) is associated with skeletal complications, including an increased risk of fractures. Reduced blood supply and bone strength may contribute to this skeletal fragility. We hypothesized that long-term administration of Exenatide, a glucagon-like peptide-1 receptor agonist, would improve bone architecture and strength of T2DM mice by increasing blood flow to bone, thereby stimulating bone formation. In this study, we used a model of obesity and severe T2DM, the leptin receptor-deficient db/db mouse to assess alterations in bone quality and hindlimb blood flow and to examine the beneficial effects of 4 weeks administration of Exenatide...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29207734/prenatal-screening-for-rare-co-inheritance-of-hbe-and-%C3%AE-thalassaemia-traits-in-western-india
#10
Parth S Shah, Hari Shankar P Ray, Ketan K Vaghasia, Sandip C Shah, Mandava V Rao
The mutations in Haemoglobin Beta (HBB) gene, bring about less or no production of Hb β-chain synthesis in affected cases, leading from minor to major types depending on haematological indices. In compound heterozygotic conditions, two traits are involved, in which one parent has HbE trait and the other has β-thalassaemia carrier (trait). Here, we report a family of Rajasthan, West India which had a proband (son) having HbE/ β-thalassaemia a co-inherited compound heterozygosity as revealed by DNA sequencing...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29205699/use-of-telehealth-in-the-delivery-of-comprehensive-care-for-patients-with-haemophilia-and-other-inherited-bleeding-disorders
#11
REVIEW
R Kulkarni
Advances in technology such as telemedicine (TM) have made access to cost-effective, quality health care feasible for remote patients. TM is especially well suited for patients with chronic disorders such as haemophilia and related haemostatic disorders that benefit not only from more frequent interaction with care providers at a specialized haemophilia treatment center but also from consultations with other specialists. Telehealth refers to a broader application of TM and includes non-clinical services such as education, provider training, administrative meetings etc...
December 5, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29188623/-pedigree-investigation-and-genetic-analysis-of-a-case-with-vel-heterozygous-deletion-mutation
#12
Taixiang Liu, Yanchun Liu, Ling Ma, Fang Zhao, Ruoyang Zhang, Lili Shi
OBJECTIVE: To analyze an individual with SMIM1 c.64_80 heterozygous deletional mutation and his family members. METHODS: Based on the molecular basis of Vel negative blood type, PCR primers specific for SMIM1 wild-type allele and c.64_80del allele were designed. PCR-sequence specific primer (PCR-SSP) and Sanger sequencing were employed to determine the genotype of all subjects. Inheritance of the Vel blood group system was investigated by pedigree analysis. RESULTS: PCR-SSP and DNA sequencing demonstrated that the proband was heterozygous for the SMIM1 c...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29184538/circulating-irisin-is-reduced-in-male-patients-with-type-1-and-type-2-myotonic-dystrophies
#13
Elena Dozio, Elena Passeri, Rosanna Cardani, Stefano Benedini, Carmen Aresta, Rea Valaperta, Massimiliano Corsi Romanelli, Giovanni Meola, Valeria Sansone, Sabrina Corbetta
Context: Myotonic dystrophies (DM) are dominantly inherited muscle disorders characterized by myotonia, muscle weakness, and wasting. The reasons for sarcopenia in DMs are uncleared and multiple factors are involved. Irisin, a positive hormone regulator of muscle growth and bone, may play a role. Objectives: To investigate (1) circulating irisin in a series of DM1 and DM2 male patients compared with healthy controls and (2) the relationships between irisin and anthropometric, metabolic and hormonal parameters...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29163366/clinical-genetic-and-protein-structural-aspects-of-familial-dysalbuminemic-hyperthyroxinemia-and-hypertriiodothyroninemia
#14
REVIEW
Ulrich Kragh-Hansen, Monica Galliano, Lorenzo Minchiotti
Familial dysalbuminemic hyperthyroxinemia (FDH-T4) and hypertriiodothyroninemia (FDH-T3) are dominantly inherited syndromes characterized by a high concentration of thyroid hormone in the blood stream. The syndromes do not cause disease, because the concentration of free hormone is normal, but affected individuals are at risk of erroneous treatment. FDH-T4 is the most common cause of euthyroid hyperthyroxinemia in Caucasian populations in which its prevalence is about 1 in 10,000 individuals, but the prevalence can be much higher in some ethnic groups...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29161780/assessment-of-relationship-of-abo-blood-groups-among-tobacco-induced-oral-cancer-patients-of-kanpur-population-uttar-pradesh
#15
Gayathri Ramesh, Anuradha Katiyar, Amrita Raj, Amit Kumar, Ramesh Nagarajappa, Amit Pandey
Background: The possibility of association between ABO blood groups and malignancy was first discussed by Anderson DE & Haas C. The association between blood group and oral cancer is least explored and hence this study was undertaken to evaluate relationship of ABO blood groups with an increased risk for oral cancer. Materials and method: The present study was conducted at various cancer hospitals in Kanpur. The study samples comprised 100 oral cancer patients and 50 controls with tobacco chewing habit...
November 2017: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/29154227/generation-of-integration-free-induced-pluripotent-stem-cell-line-njmui001-a-from-a-phenylketonuria-patient
#16
Tianhui Xu, Dong Liang, Jingjing Zhang, Xiuqing Ji, Huanran Hu, Yun Sun, Tao Jiang, Xia Wang, Ping Hu, Zhengfeng Xu
PKU is a prevalent type of inherited metabolic disease, caused by the defective phenylalanine metabolism. In most PKU cases, mutations in the PAH gene could be found. Dysfunction of this hepatic enzyme will lead to diverse clinical symptoms due to a failure in converting phenylalanine into tyrosine. Here, we report an integration-free human induced pluripotent stem cell line (NJMUi001-A) generated from peripheral blood mononuclear cells of a PKU patient by using Sendai virus. This iPS cell line has characteristics of pluripotent stem cells and can be used as a useful tool for the investigation of this inherited metabolic disease...
November 10, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29149824/the-role-of-gene-therapy-in-the-treatment-of-retinal-diseases-a-review
#17
Claudio Campa, Carla Enrica Gallenga, Elena Bolletta, Paolo Perri
Background: Gene therapy represents the therapeutic delivery of nucleic acid polymers into a patient's cells with the aim of treating an underlying disease. Over the past 2 decades this new therapy has made substantial progress owing to better understanding of the pathobiologic basis of various diseases coupled with growth of gene transfer biotechnologies. The eye, in particular, represents a suitable target for such therapy due to the immune privilege provided by the blood-ocular barrier, the ability to directly visualize, access and locally treat the cells and the minimal amount of vector needed given the size of this organ...
November 16, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#18
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29126301/coagulation-testing-in-the-core-laboratory
#19
William E Winter, Sherri D Flax, Neil S Harris
Primary hemostasis begins with endothelial injury. VWF, produced by endothelial cells, binds to platelets and links them to subendothelial collagen. Platelet-derived ADP and thromboxane activate non-adhered platelets via their GPIIb/IIIa receptors, allowing these platelets to participate in platelet aggregation. Secondary hemostasis is initiated with the binding of factor VII to extravascular tissue factor (TF). Factors II, VII, IX and X are vitamin K-dependent factors. The role of vitamin K is to assist in the addition of gamma carboxylate groups to glutamic acids in the "GLA" domains of these factors...
November 8, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29121498/cardiac-involvement-in-myotonic-dystrophy-the-role-of-troponins-and-n-terminal-pro-b-type-natriuretic-peptide
#20
Rea Valaperta, Claudia De Siena, Rosanna Cardani, Fortunata Lombardia, Edina Cenko, Benedetta Rampoldi, Barbara Fossati, Elisa Brigonzi, Roberta Rigolini, Paola Gaia, Giovanni Meola, Elena Costa, Raffaele Bugiardini
BACKGROUND AND AIMS: Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are dominant inherited muscular dystrophies with multiple systemic involvement, often producing cardiac injury. This study sought to determine the clinical significance of elevated high sensitivity cardiac troponin T and I (hs-cTnT and hs-cTnI), and N-terminal pro B-type natriuretic peptide (NT-pro-BNP) in this population. METHODS: Sixty DM patients (35 men and 25 women; mean age: 45.1 years, range: 12-73 years) underwent clinical cardiac investigations and measurements of serum hs-cTnT, hs-cTnI, creatine kinase (CK), and NT-proBNP...
October 21, 2017: Atherosclerosis
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