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inheritance of blood groups

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https://www.readbyqxmd.com/read/28094851/blood-transfusion-for-preventing-primary-and-secondary-stroke-in-people-with-sickle-cell-disease
#1
REVIEW
Lise J Estcourt, Patricia M Fortin, Sally Hopewell, Marialena Trivella, Winfred C Wang
BACKGROUND: Sickle cell disease is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. Sickle cell disease can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Stroke affects around 10% of children with sickle cell anaemia (HbSS). Chronic blood transfusions may reduce the risk of vaso-occlusion and stroke by diluting the proportion of sickled cells in the circulation...
January 17, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28075532/clinical-and-biochemical-characterization-of-the-prothrombin-belgrade-mutation-in-a-large-serbian-pedigree-new-insights-into-antithrombin-resistance-mechanism
#2
Predrag Miljic, Maja Gvozdenov, Yuki Takagi, Akira Takagi, Iva Pruner, Marija Dragojevic, Branko Tomic, Jelena Bodrozic, Tetsuhito Kojima, Dragica Radojkovic, Valentina Djordjevic
BACKGROUND: The recently reported c.1787G>A mutation in the prothrombin gene leads to Arg596Gln replacement in the protein molecule (prothrombin Belgrade). This substitution impairs binding of antithrombin to thrombin and results in inherited thrombophilia, known as antithrombin resistance. OBJECTIVES: We aimed to elucidate the clinical and biochemical characteristics of thrombophilia associated with antithrombin resistance in a large Serbian family with the prothrombin Belgrade mutation...
January 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28070903/myocardial-deformation-in-pediatric-patients-with-mucopolysaccharidoses-a-two-dimensional-speckle-tracking-echocardiography-study
#3
Francesco Borgia, Enrica Pezzullo, Vincenzo Schiano Lomoriello, Regina Sorrentino, Francesco Lo Iudice, Sara Cocozza, Roberto Della Casa, Giancarlo Parenti, Pietro Strisciuglio, Bruno Trimarco, Maurizio Galderisi
BACKGROUND: Mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders caused by deficiency of required glycosaminoglycans breakdown enzymes, inducing cardiac involvement. Little is known about myocardial deformation involvement in MPS. Our aim was to assess biventricular structure and function in asymptomatic children with MPS using standard echo Doppler and 2D speckle tracking (STE). METHODS: Fifteen MPS children (one type I, six type II, three type III A, one III B, three IV A, one VI), asymptomatic for cardiac symptoms, and 15 age and sex-matched healthy controls underwent echo Doppler and STE...
January 10, 2017: Echocardiography
https://www.readbyqxmd.com/read/28067393/longitudinal-assessment-of-metal-concentrations-and-copper-isotope-ratios-in-the-g93a-sod1-mouse-model-of-amyotrophic-lateral-sclerosis
#4
T Gabriel Enge, Heath Ecroyd, Dianne F Jolley, Justin J Yerbury, Anthony Dosseto
Amyotrophic lateral sclerosis (ALS) is a motor neuron disease, which involves progressive motor neuron degeneration in the central nervous system (CNS). The G93A SOD1 mouse model simulates one of the most common causes of familial ALS through the overexpression of a mutated form of the human gene encoding copper/zinc superoxide dismutase (SOD1). Transition metals, particularly Cu and Zn, have been shown to behave abnormally in the disease context and have been hypothesized to contribute to and potentially trigger the disease...
January 9, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28050399/the-effect-of-consanguineous-marriage-on-mental-health-among-the-students-of-the-shahrekord-university-of-medical-sciences
#5
Maryam Hosseinpour, Fatemeh Deris, Kamal Solati-Dehkordi, Sheida Heidari-Soreshjani, Negar Karimi, Hossein Teimori
INTRODUCTION: In Iran, after unintentional accidents, mental health problems are the second leading burden of disease. Consanguineous marriage is very common in Iran and the association between parental consanguinity and mental health is an important issue that has not yet been studied sufficiently in Iran. AIM: To investigate the effect of consanguinity and the degree of relationship on different levels of mental health. MATERIALS AND METHODS: In this cross-sectional study, conducted in the Shahrekord University of Medical Sciences, two groups of students were enrolled...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28024295/characterization-of-two-novel-fancg-mutations-in-indian-fanconi-anemia-patients
#6
Avani Solanki, C Kumar Selvaa, Frenny Sheth, Nita Radhakrishnan, Manas Kalra, Babu Rao Vundinti
FA is a rare recessive genetic disorder with autosomal or X-linked mode of inheritance and is associated with 19 different FA complementation groups. We have studied three patients clinically diagnosed as FA. All three patients showed a high frequency chromosomal breakage in MMC induced blood cultures and FANCD2 non-monoubiquitination by western blotting. The molecular analysis using direct sequencing revealed two novel mutations in FANCG; 2 novel mutations c.1143+5G>C and c.883dupG, and a reported mutation c...
November 29, 2016: Leukemia Research
https://www.readbyqxmd.com/read/27959767/variation-in-pcsk9-and-hmgcr-and-risk-of-cardiovascular-disease-and-diabetes
#7
Brian A Ference, Jennifer G Robinson, Robert D Brook, Alberico L Catapano, M John Chapman, David R Neff, Szilard Voros, Robert P Giugliano, George Davey Smith, Sergio Fazio, Marc S Sabatine
Background Pharmacologic inhibitors of proprotein convertase subtilisin-kexin type 9 (PCSK9) are being evaluated in clinical trials for the treatment of cardiovascular disease. The effect of lowering low-density lipoprotein (LDL) cholesterol levels by inhibiting PCSK9 on the risk of cardiovascular events or diabetes is unknown. Methods We used genetic scores consisting of independently inherited variants in the genes encoding PCSK9 and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR; the target of statins) as instruments to randomly assign 112,772 participants from 14 studies, with 14,120 cardiovascular events and 10,635 cases of diabetes, to groups according to the number of LDL cholesterol-lowering alleles that they had inherited...
1, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27940953/genetic-invalidation-of-lp-pla2-as-a-therapeutic-target-large-scale-study-of-five-functional-lp-pla2-lowering-alleles
#8
John M Gregson, Daniel F Freitag, Praveen Surendran, Nathan O Stitziel, Rajiv Chowdhury, Stephen Burgess, Stephen Kaptoge, Pei Gao, James R Staley, Peter Willeit, Sune F Nielsen, Muriel Caslake, Stella Trompet, Linda M Polfus, Kari Kuulasmaa, Jukka Kontto, Markus Perola, Stefan Blankenberg, Giovanni Veronesi, Francesco Gianfagna, Satu Männistö, Akinori Kimura, Honghuang Lin, Dermot F Reilly, Mathias Gorski, Vladan Mijatovic, Patricia B Munroe, Georg B Ehret, Alex Thompson, Maria Uria-Nickelsen, Anders Malarstig, Abbas Dehghan, Thomas F Vogt, Taishi Sasaoka, Fumihiko Takeuchi, Norihiro Kato, Yoshiji Yamada, Frank Kee, Martina Müller-Nurasyid, Jean Ferrières, Dominique Arveiler, Philippe Amouyel, Veikko Salomaa, Eric Boerwinkle, Simon G Thompson, Ian Ford, J Wouter Jukema, Naveed Sattar, Chris J Packard, Abdulla Al Shafi Majumder, Dewan S Alam, Panos Deloukas, Heribert Schunkert, Nilesh J Samani, Sekar Kathiresan, Børge G Nordestgaard, Danish Saleheen, Joanna Mm Howson, Emanuele Di Angelantonio, Adam S Butterworth, John Danesh
AIMS: Darapladib, a potent inhibitor of lipoprotein-associated phospholipase A2 (Lp-PLA2), has not reduced risk of cardiovascular disease outcomes in recent randomized trials. We aimed to test whether Lp-PLA2 enzyme activity is causally relevant to coronary heart disease. METHODS: In 72,657 patients with coronary heart disease and 110,218 controls in 23 epidemiological studies, we genotyped five functional variants: four rare loss-of-function mutations (c.109+2T > C (rs142974898), Arg82His (rs144983904), Val279Phe (rs76863441), Gln287Ter (rs140020965)) and one common modest-impact variant (Val379Ala (rs1051931)) in PLA2G7, the gene encoding Lp-PLA2...
December 11, 2016: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/27928477/health-related-quality-of-life-and-health-utility-values-in-beta-thalassemia-major-patients-receiving-different-types-of-iron-chelators-in-iran
#9
Meysam Seyedifar, Farid Abedin Dorkoosh, Amir Ali Hamidieh, Majid Naderi, Hossein Karami, Mehran Karimi, Masoomeh Fadaiyrayeny, Masoumeh Musavi, Sanaz Safaei, Mohammad Mahdi Ahmadian-Attari, Molouk Hadjibabaie, Abdol Majid Cheraghali, Ali Akbari Sari
Background: Thalassemia is a chronic, inherited blood disorder, which in its most severe form, causes life-threatening anemia. Thalassemia patients not only engage with difficulties of blood transfusion and iron chelating therapy but also have some social challenges and health threatening factors. There are some reports on quality of life in thalassemia patients around the world from southeast of Asia to Italy in Europe and United States. In this study, we tried to evaluate and compare Health Related Quality of life (HRQoL) and the health utility in beta thalassemia major patients receiving different types of iron chelators and living in different socio-economical situations...
October 1, 2016: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#10
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27900772/hematopoietic-stem-cell-transplantation-for-people-with-%C3%A3-thalassaemia-major
#11
REVIEW
Vanitha A Jagannath, Zbys Fedorowicz, Amani Al Hajeri, Akshay Sharma
BACKGROUND: Thalassemia is an inherited autosomal recessive blood disorder, caused by mutations in globin genes or their regulatory regions. This results in a reduced rate of synthesis of one of the globin chains that make up haemoglobin. In ß-thalassaemia major there is an underproduction of ß-globin chains combined with excess of free α-globin chains. The excess free α-globin chains precipitate in red blood cells, leading to their destruction (haemolysis) and ineffective erythropoiesis...
November 30, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27896927/a-retrospective-review-of-anesthesia-and-perioperative-care-in-children-with-medium-chain-acyl-coa-dehydrogenase-deficiency
#12
Claire Allen, Russell Perkins, Bernd Schwahn
BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency is the most common genetically determined disorder of mitochondrial fatty acid oxidation. Decompensation can result in hypoglycemia, seizures, coma, and death but may be prevented by ensuring glycogen stores do not become depleted. Perioperative care is of interest as surgery, fasting, and infection may all trigger decompensation and the safety of anesthetic agents has been questioned. Current guidelines from the British Inherited Metabolic Disease Group advise on administering fluid containing 10% glucose during the perioperative period...
January 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/27876311/circulating-biomarkers-in-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-patients
#13
Francesca Pescini, Ida Donnini, Francesca Cesari, Serena Nannucci, Raffaella Valenti, Valentina Rinnoci, Anna Poggesi, Anna Maria Gori, Betti Giusti, Angela Rogolino, Alessandra Carluccio, Silvia Bianchi, Maria Teresa Dotti, Antonio Federico, Maurizio Balestrino, Enrico Adriano, Rosanna Abbate, Domenico Inzitari, Leonardo Pantoni
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral microangiopathy presenting with variable features, including migraine, psychiatric disorders, stroke, and cognitive decline and variable disability. On neuroimaging, CADASIL is characterized by leukoencephalopathy, multiple lacunar infarcts, and microbleeds. Previous studies suggest a possible role of endothelial impairment in the pathogenesis of the disease...
November 18, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27863452/mutation-in-non-coding-rna-rnu12-causes-early-onset-cerebellar-ataxia
#14
Mahmoud Fawzi Elsaid, Nader Chalhoub, Tawfeg Ben-Omran, Pankaj Kumar, Hussein Kamel, Khalid Ibrahim, Yasmin Mohamoud, Eman Al-Dous, Iman Al-Azwani, Joel A Malek, Karsten Suhre, M Elizabeth Ross, Alice Abdel Aleem
OBJECTIVE: Exome sequences account for only 2% of the genome and may overlook mutations causing disease. To obtain a more complete view, whole genome sequencing (WGS) was analyzed in a large consanguineous family in which members displayed autosomal recessively inherited cerebellar ataxia manifesting before two years of age. METHODS: WGS from blood derived gDNA was used for homozygosity mapping and a rare variant search. RNA from isolated blood leukocytes was used for quantitative PCR, RNA sequencing and comparison of the transcriptomes of affected and unaffected family members...
November 18, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27857895/angiotensin-converting-enzyme-insertion-deletion-polymorphism-is-not-associated-with-vasoocclusive-complications-of-sickle-cell-anemia
#15
Sana Abass Mahjoub, Enaam Abdelrhman, Mohammed Elfatih Mohy El-Deen, Mustafa Sharf Eldin Mustafa, Elshazali Widaa Ali
CONTEXT: Sickle cell anemia (SCA) is a group of hemoglobin disorders in which the sickle β-globin gene is inherited. It is associated with many complications; most of them are related to thrombotic events. AIM: This study aimed to investigate the association between angiotensin converting enzyme (ACE) insertion/deletion polymorphism and complications of SCA. SETTINGS AND DESIGN: A case-control study was conducted in Khartoum state. SUBJECTS AND METHODS: A total of 50 patients with SCA and 40 healthy volunteers as a control group were enrolled in this study...
October 2016: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/27832415/household-financial-burden-of-phenylketonuria-and-its-impact-on-treatment-in-china-a-cross-sectional-study
#16
Lin Wang, Hui Zou, Fang Ye, Kundi Wang, Xiaowen Li, Zhihua Chen, Jie Chen, Bingjuan Han, Weimin Yu, Chun He, Ming Shen
BACKGROUND: Phenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity, the management of PKU may bring a formidable economic burden to parents and caregivers. It is still unknown what the out-of-pocket expenses are for a patient with PKU in China. This paper explores the household financial burden of classical PKU and its impact on Chinese families in a quantitative manner for the first time. METHODS: A non-interventional and observational study was conducted at the China-Japan Friendship Hospital, one of the national centers for inherited metabolic disorders in China...
November 10, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27829333/immune-status-in-children-with-beta-thalassemia-in-correlation-with-iron-overload-single-center-egyptian-study
#17
Adel Abd Elhaleim Hagag, Mohamed A Elgamsy, Hassan M El-Asy, Rasha M Gamal, Walid N Elshahaby, Enaam S Abd Elbar
BACKGROUND: 'Beta thalassemia is inherited hemoglobin disorder resulting in chronic hemolytic anemia that requires lifelong transfusion therapy'. 'Repeated blood transfusions and RBCs hemolysis are the main causes of iron overload', which in addition to immune abnormalities, are common predisposing factors to infection in patients with thalassemia. Aim of this work was to study immune status including T lymphocyte subsets and serum immunoglobulin levels 'in children with beta- thalassemia in correlation with iron overload'...
November 7, 2016: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/27802331/inflammation-in-sickle-cell-disease-differential-and-down-expressed-plasma-levels-of-annexin-a1-protein
#18
Lidiane S Torres, Jéssika V Okumura, Danilo G H Silva, Kallyne K O Mimura, Édis Belini-Júnior, Renan G Oliveira, Clarisse L C Lobo, Sonia M Oliani, Claudia R Bonini-Domingos
Sickle cell disease (SCD) is an inherited hemolytic anemia whose pathophysiology is driven by polymerization of the hemoglobin S (Hb S), leading to hemolysis and vaso-occlusive events. Inflammation is a fundamental component in these processes and a continuous inflammatory stimulus can lead to tissue damages. Thus, pro-resolving pathways emerge in order to restore the homeostasis. For example there is the annexin A1 (ANXA1), an endogenous anti-inflammatory protein involved in reducing neutrophil-endothelial interactions, accelerating neutrophil apoptosis and stimulating macrophage efferocytosis...
2016: PloS One
https://www.readbyqxmd.com/read/27785411/gene-mapping-in-an-anophthalmic-pedigree-of-a-consanguineous-pakistani-family-opened-new-horizons-for-research
#19
S Saleha, M Ajmal, S Zafar, A Hameed
Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have unilateral or bilateral anophthalmia, and generally have short palpebral fissures and small orbits. Anophthalmia may be isolated or associated with a broader syndrome and may have genetic or environmental causes. However, genetic cause has been defined in only a small proportion of cases, therefore, a consanguineous Pakistani family of the Pashtoon ethnic group, with isolated clinical anophthalmia was investigated using linkage mapping...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27764878/environmental-and-genetic-risk-factors-associated-with-venous-thromboembolism
#20
Marta Crous-Bou, Laura B Harrington, Christopher Kabrhel
Venous thromboembolism (VTE) includes deep vein thrombosis and pulmonary embolism, and a combination of environmental and genetic risk factors contributes to VTE risk. Within environmental risk factors, some are provoking (e.g., cancer, surgery, trauma or fracture, immobilization, pregnancy and the postpartum period, long-distance travel, hospitalization, catheterization, and acute infection) and others are nonprovoking (e.g., age, sex, race/ethnicity, body mass index and obesity, oral contraceptive or hormone therapy use, corticosteroid use, statin use, diet, physical activity, sedentary time, and air pollution)...
November 2016: Seminars in Thrombosis and Hemostasis
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