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inheritance of blood types

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https://www.readbyqxmd.com/read/28217596/distribution-of-abo-and-rh-types-in-voluntary-blood-donors-in-jharkhand-area-as-a-study-conducted-by-rims-ranchi
#1
Anu Singh, Ramesh Kumar Srivastava, Kabita S Deogharia, Kranti Kumar Singh
BACKGROUND: This study was done to know the distribution and frequencies of blood groups among blood donors attending voluntary blood donation camps organized by the Rajendra Institute of Medical Sciences (RIMS), Ranchi, Jharkhand so that demand and supply ratio of the four blood groups can be maintained so that no patient dies due to lack of a particular blood group. CONTEXT: Up till now about 400 red cells antigen have been identified. The majority follow Mendelian inheritance...
July 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/28211988/intrathecal-enzyme-replacement-therapy-reverses-cognitive-decline-in-mucopolysaccharidosis-type-i
#2
Igor Nestrasil, Elsa Shapiro, Alena Svatkova, Patricia Dickson, Agnes Chen, Amy Wakumoto, Alia Ahmed, Edward Stehel, Sarah McNeil, Curtis Gravance, Elizabeth Maher
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied α-L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28203327/a-rapid-screening-test-on-dried-blood-for-the-neonatal-diagnosis-of-tyrosinemia-type-i
#3
Farahnaz Bodaghkhan, Bita Geramizadeh, Abbas Abdollah Rajeh, Mahmoud Haghighat, Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Mohammad-Hadi Imanieh
BACKGROUND: Tyrosinemia is an inherited metabolic disorder characterized by elevated levels of tyrosine and its metabolites in plasma. Without treatment, the disease will progress to hepatic and renal failure, so that without liver transplantation will cause death in less than 10 years of age. So, early diagnosis and treatment can be life saving and crucial. It means that with early treatment starting in the neonatal period, the patient can have normal life with very few restrictions in diets containing tyrosine and phenylalanine...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28194446/knockin-mouse-with-mutant-g%C3%AE-11-mimics-human-inherited-hypocalcemia-and-is-rescued-by-pharmacologic-inhibitors
#4
Kelly L Roszko, Ruiye Bi, Caroline M Gorvin, Hans Bräuner-Osborne, Xiao-Feng Xiong, Asuka Inoue, Rajesh V Thakker, Kristian Strømgaard, Thomas Gardella, Michael Mannstadt
Heterotrimeric G proteins play critical roles in transducing extracellular signals generated by 7-transmembrane domain receptors. Somatic gain-of-function mutations in G protein α subunits are associated with a variety of diseases. Recently, we identified gain-of-function mutations in Gα11 in patients with autosomal-dominant hypocalcemia type 2 (ADH2), an inherited disorder of hypocalcemia, low parathyroid hormone (PTH), and hyperphosphatemia. We have generated knockin mice harboring the point mutation GNA11 c...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28179280/gata-factor-mutations-in-hematologic-disease
#5
John D Crispino, Marshall S Horwitz
GATA family proteins play essential roles in development of many cell types, including hematopoietic, cardiac, and endodermal lineages. The first three factors, GATAs 1,2 and 3, are essential for normal hematopoiesis, and their mutations are responsible for a variety of blood disorders. Acquired and inherited GATA1 mutations contribute to Diamond Blackfan anemia, acute megakaryoblastic leukemia, transient myeloproliferative disorder and a group of related congenital dyserythropoietic anemias with thrombocytopenia...
February 8, 2017: Blood
https://www.readbyqxmd.com/read/28138561/cd44-expression-in-endothelial-colony-forming-cells-regulates-neurovascular-trophic-effect
#6
Susumu Sakimoto, Valentina Marchetti, Edith Aguilar, Kelsey Lee, Yoshihiko Usui, Salome Murinello, Felicitas Bucher, Jennifer K Trombley, Regis Fallon, Ravenska Wagey, Carrie Peters, Elizabeth L Scheppke, Peter D Westenskow, Martin Friedlander
Vascular abnormalities are a common component of eye diseases that often lead to vision loss. Vaso-obliteration is associated with inherited retinal degenerations, since photoreceptor atrophy lowers local metabolic demands and vascular support to those regions is no longer required. Given the degree of neurovascular crosstalk in the retina, it may be possible to use one cell type to rescue another cell type in the face of severe stress, such as hypoxia or genetically encoded cell-specific degenerations. Here, we show that intravitreally injected human endothelial colony-forming cells (ECFCs) that can be isolated and differentiated from cord blood in xeno-free media collect in the vitreous cavity and rescue vaso-obliteration and neurodegeneration in animal models of retinal disease...
January 26, 2017: JCI Insight
https://www.readbyqxmd.com/read/28128413/protective-role-of-294-t-c-rs2016520-polymorphism-of-ppard-in-mexican-patients-with-colorectal-cancer
#7
M A Rosales-Reynoso, L I Wence-Chavez, A R Arredondo-Valdez, S Dumois-Petersen, P Barros-Núñez, M P Gallegos-Arreola, S E Flores-Martínez, J Sánchez-Corona
PPARD encodes for peroxisome proliferator-activated receptor delta, which plays a significant role in controlling lipid metabolism, atherosclerosis, inflammation, cancer growth, progression, and apoptosis. Accumulated evidence suggests that the polymorphism rs2016520 in PPARD is associated with lipid metabolism, obesity, metabolic syndrome, and type 2 diabetes mellitus. The aim of this study was to determine whether the single nucleotide polymorphism +294T/C (rs2016520) in PPARD is associated with colorectal cancer (CRC) in the Mexican population...
January 23, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28116332/sherpas-share-genetic-variations-with-tibetans-for-high-altitude-adaptation
#8
Sushil Bhandari, Xiaoming Zhang, Chaoying Cui, Yangla, Lan Liu, Ouzhuluobu, Baimakangzhuo, Gonggalanzi, Caijuan Bai, Bianba, Yi Peng, Hui Zhang, Kun Xiang, Hong Shi, Shiming Liu, Gengdeng, Tianyi Wu, Xuebin Qi, Bing Su
BACKGROUND: Sherpas, a highlander population living in Khumbu region of Nepal, are well known for their superior climbing ability in Himalayas. However, the genetic basis of their adaptation to high-altitude environments remains elusive. METHODS: We collected DNA samples of 582 Sherpas from Nepal and Tibetan Autonomous Region of China, and we measured their hemoglobin levels and degrees of blood oxygen saturation. We genotyped 29 EPAS1 SNPs, two EGLN1 SNPs and the TED polymorphism (3...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28096552/novel-missense-variant-of-cacna1a-gene-in-a-slovak-family-with-episodic-ataxia-type-2
#9
Andrea Petrovicova, Miroslav Brozman, Egon Kurca, Tibor Gobo, Jana Dluha, Klaudia Kalmarova, Vladimir Nosal, Martina Hikkelova, Adriana Krajciova, Tatiana Burjanivova, Stefan Sivak
INTRODUCTION: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours. The most common subtype is EA type 2 (EA2) caused by pathogenic variants of calcium voltage-gated channel subunit alpha1 A gene (CACNA1A) on chromosome 19p13. SUBJECTS AND METHODS: We examined a Slovak three-generation family. Genomic DNA of the family members was extracted from peripheral blood and amplified by polymerase chain reaction...
January 13, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28092090/prevalence-of-mucopolysaccharidosis-types-i-ii-and-vi-in-the-pediatric-and-adult-population-with-carpal-tunnel-syndrome-cts-retrospective-and-prospective-analysis-of-patients-treated-for-cts
#10
Mette Borch Nørmark, Nanna Kjaer, Allan Meldgaard Lund
BACKGROUND: We wanted to investigate whether the prevalence of mucopolysaccharidoses (MPS) I, II, and VI was higher than expected in a selected cohort of patients with carpal tunnel syndrome (CTS). CTS is a common finding in patients with MPS, and therefore we screened patients who had undergone surgery for CTS for undiagnosed MPS. PATIENTS AND METHODS: Patients who had been operated for CTS were found in databases from two hospitals. Furthermore, patients who had undergone surgery for CTS when under the age of 18 were retrieved from the National Patient Registry...
January 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28070903/myocardial-deformation-in-pediatric-patients-with-mucopolysaccharidoses-a-two-dimensional-speckle-tracking-echocardiography-study
#11
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/28063323/genetic-and-epigenetic-regulation-on-the-transcription-of-gabrb2-genotype-dependent-hydroxymethylation-and-methylation-alterations-in-schizophrenia
#12
Lu Zong, Lin Zhou, Yu Hou, Lulu Zhang, Wei Jiang, Wenwei Zhang, Lijuan Wang, Xia Luo, Shiqing Wang, Cong Deng, Zhizhen Peng, Shufen Li, Jiming Hu, Hu Zhao, Cunyou Zhao
To improve our understanding of the abnormalities and non-Mendelian inheritance characteristics of schizophrenia, this study examined DNA methylation (5mC) and hydroxymethylation (5hmC) in the schizophrenia-associated GABRB2 gene encoding the type A γ-aminobutyric acid receptor β2 subunit. DNAs from the peripheral white blood cells of 279 schizophrenic patients and 256 controls from the Chinese Han population were examined to reveal that the GABRB2 promoter P1-5mC level which was correlated with olanzapine administration, P2-5mC/5hmC level, and Alu-5mC level which was correlated with administration of ziprasidone or oxcarbazepine, were increased in schizophrenic patients...
December 28, 2016: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28030378/does-lifestyle-contribute-to-disease-severity-in-patients-with-inherited-lipid-disorders
#13
Benoit J Arsenault, Nicolas Perrot, Patrick Couture
PURPOSE OF REVIEW: Patients with familial hypercholesterolemia, familial combined hyperlipidemia and hyperlipoprotein(a) are at high cardiovascular risk. Increasing evidence suggest that lifestyle-related risk factors such as physical inactivity, and poor diet quality could influence cardiovascular risk in these patients. Our objective is to review the evidence that supports the role of lifestyle-related factors in the prediction of cardiovascular risk in patients with inherited lipid disorders...
December 24, 2016: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28026130/efficacy-and-safety-of-a-vwf-fviii-concentrate-wilate-%C3%A2-in-inherited-von-willebrand-disease-patients-undergoing-surgical-procedures
#14
A Srivastava, M Serban, S Werner, B A Schwartz, C M Kessler
INTRODUCTION: Surgical procedures in von Willebrand disease (VWD) patients may require prophylactic treatment with exogenous von Willebrand factor (VWF) and coagulation factor VIII (FVIII) to prevent excessive bleeding. Wilate(®) is a plasma-derived, double virus-inactivated, highly purified, freeze-dried VWF/FVIII concentrate, containing both factors in a physiological activity ratio of 1:1. AIM: To investigate the efficacy and safety of wilate(®) in maintaining haemostasis in VWD patients undergoing surgical procedures...
December 27, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28018459/a-novel-mutation-of-clcnkb-in-a-korean-patient-of-mixed-phenotype-of-bartter-gitelman-syndrome
#15
Hee-Won Cho, Sang Taek Lee, Heeyeon Cho, Hae Il Cheong
Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28003588/effectiveness-of-medium-chain-triglyceride-oil-therapy-in-two-japanese-citrin-deficient-siblings-evaluation-using-oral-glucose-tolerance-tests
#16
Hiroki Otsuka, Hideo Sasai, Elsayed Abdelkreem, Norio Kawamoto, Minako Kawamoto, Toshiya Kamiya, Yasuo Tanimoto, Atsuo Kikuchi, Shigeo Kure, Chikahiko Numakura, Kiyoshi Hayasaka, Toshiyuki Fukao
Citrin deficiency, an inherited defect of the liver-type mitochondrial aspartate/glutamate carrier isoform (citrin), may cause impairment of glycolysis because of an increase in the cytosolic NADH/NAD(+) ratio. We report a Japanese boy whose main complaint was recurrent hypoglycemic episodes. He was suspected as having citrin deficiency because of his peculiar preference for protein- and fat-rich food. His young sister also had a similar food preference. Both siblings were diagnosed with citrin deficiency by genetic analysis...
2016: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27982320/allogenic-bone-narrow-transplantation-in-sickle-cell-diseases
#17
Belinda Pinto Simões, Fabiano Pieroni, Thalita Costa, George Navarro Barros, Guilherme Darrigo, Carlos Settani Grecco, Juliana Elias Bernardes, Daniela Moraes, Ana Beatriz Lima Stracieri, Renato Cunha, Maria Carolina Rodrigues
Sickle-cell diseases are the most common inherited hemoglobinopathies worldwide. Improvement in survival has been seen in the last decades with the introduction of careful screening and prevention of complications and the introduction of hydroxyurea. Stem-cell transplantation is currently the only curative option for these patients and has been indicated for patients with neurological events, repeated vaso-occlusive crisis, any organ damage or presence of red blood cell antibodies. Related bone-marrow or cord-blood transplant has shown an overall survival of more than 90% with a disease-free survival of 90% in 1,000 patients transplanted in the last decades...
October 2016: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/27974123/-cpt2-gene-mutation-analysis-and-prenatal-diagnosis-in-a-family-with-carnitine-palmitoyltransferase-ii-deficiency
#18
Jian-Qiang Tan, Da-Yu Chen, Wu-Gao Li, Zhe-Tao Li, Ji-Wei Huang, Ti-Zhen Yan, Ren Cai
This study aimed to identify the type of carnitine palmitoyltransferase 2 (CPT2) gene mutation in the child with carnitine palmitoyltransferase II (CPT II) deficiency and her parents and to provide the genetic counseling and prenatal diagnosis for the family members. As the proband, a 3-month-old female baby was admitted to the hospital due to fever which had lasted for 8 hours. Tandem mass spectrometric analysis for blood showed an elevated plasma level of acylcarnitine, which suggested CPT II deficiency. The genomic DNA was extracted from peripheral blood of the patient and her parents...
December 2016: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/27959767/variation-in-pcsk9-and-hmgcr-and-risk-of-cardiovascular-disease-and-diabetes
#19
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/27933089/a-rare-inherited-15q11-2-q13-1-interstitial-duplication-with-maternal-somatic-mosaicism-renal-carcinoma-and-autism
#20
Nora Urraca, Brian Potter, Rachel Hundley, Eniko K Pivnick, Kathryn McVicar, Ronald L Thibert, Christopher Ledbetter, Reed Chamberlain, Leticia Miravalle, Carissa L Sirois, Stormy Chamberlain, Lawrence T Reiter
Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are de novo, maternal in origin and fully penetrant for ASD. Here, we describe a unique family with an interstitial 15q11.2-q13.1 maternal duplication and the presence of somatic mosaicism in the mother. She is typically functioning, but formal autism testing showed mild ASD. She had several congenital anomalies, and she is the first 15q Duplication case reported in the literature to develop unilateral renal carcinoma...
2016: Frontiers in Genetics
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