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https://www.readbyqxmd.com/read/29768104/knowledge-beliefs-attitudes-and-behaviors-regarding-sickle-cell-disease-implications-for-prevention
#1
Marcella Smith, Gracie Brownell
Sickle cell disease (SCD) is a widespread inherited blood disorder, which leaves lasting effects on the health, social functioning, and finances of individuals, families, communities, and health care systems. A nonexperimental, cross-sectional research design was used to assess 415 college students' knowledge about SCD. Data was obtained through an online survey derived from a modified version of the SCD Knowledge Assessment Tool. The majority of participants (79%) reported previous SCD knowledge; however, 21% of the participants reported no previous SCD knowledge...
May 16, 2018: Social Work in Public Health
https://www.readbyqxmd.com/read/29764569/-combined-effect-of-gestational-age-and-birth-weight-on-metabolites-related-to-inherited-metabolic-diseases-in-neonates
#2
Fang Yi, Ling Wang, Mei Wang, Xue-Lian Yuan, Hua-Jing Wan, Jia-Yuan Li
OBJECTIVE: To study the combined effect of gestational age and birth weight on metabolites related to inherited metabolic diseases (IMD). METHODS: A total of 3 381 samples ruled out of IMD by follow-up were randomly selected from 38 931 newborns who participated in the neonatal IMD screening during 2014-2016. The 3 381 neonates were categorized into seven groups according to their gestational age and birth weight: extremely preterm appropriate-for-gestational age (AGA) group (n=12), preterm small-for-gestational age (SGA) group (n=18), preterm AGA group (n=219), preterm large-for-gestational age (LGA) group (n=18), full-term SGA group (n=206), full-term AGA group (n=2 677), and full-term LGA group (n=231)...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29750678/ce-understanding-the-nurse-s-role-in-managing-gaucher-disease
#3
Erika R Vucko
How advances in screening, diagnosis, and treatment affect patient care. ABSTRACT: Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. It results from a deficiency of acid β-glucocerebrosidase and can affect the spleen, liver, bone, bone marrow, and central nervous system. Gaucher disease is clinically classified into one of three phenotypes, depending on the absence or presence of neurodegenerative disease and the rate of disease progression...
May 11, 2018: American Journal of Nursing
https://www.readbyqxmd.com/read/29740775/evaluation-of-plasma-biomarkers-of-inflammation-in-patients-with-maple-syrup-urine-disease
#4
Giselli Scaini, Tássia Tonon, Carolina F Moura de Souza, Patricia F Schuck, Gustavo C Ferreira, João Quevedo, João Seda Neto, Tatiana Amorim, Jose S Camelo, Ana Vitoria Barban Margutti, Rafael Hencke Tresbach, Fernanda Sperb-Ludwig, Raquel Boy, Paula F V de Medeiros, Ida Vanessa D Schwartz, Emilio Luiz Streck
Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder that affects branched-chain amino acid (BCAA) catabolism and is associated with acute and chronic brain dysfunction. Recent studies have shown that inflammation may be involved in the neuropathology of MSUD. However, these studies have mainly focused on single or small subsets of proteins or molecules. Here we performed a case-control study, including 12 treated-MSUD patients, in order to investigate the plasmatic biomarkers of inflammation, to help to establish a possible relationship between these biomarkers and the disease...
May 8, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29723117/hereditary-xanthinuria-is-not-so-rare-disorder-of-purine-metabolism
#5
I Sebesta, B Stiburkova, J Krijt
Hereditary xanthinuria (type I) is caused by an inherited deficiency of the xanthine oxidorectase (XDH/XO), and is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine, leading to urolithiasis. Type II results from a combined deficiency of XDH/XO and aldehyde oxidase. Patients present with hematuria, renal colic, urolithiasis or even acute renal failure. Clinical symptoms are the same for both types. In a third type, clinically distinct, sulfite oxidase activity is missing as well as XDH/XO and aldehyde oxidase...
May 3, 2018: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/29721948/identification-of-novel-deletions-as-the-underlying-cause-of-retinal-degeneration-in-two-pedigrees
#6
Kari Branham, Aditya A Guru, Igor Kozak, Pooja Biswas, Mohammad Othman, Kameron Kishaba, Hassan Mansoor, Sheikh Riazuddin, John R Heckenlively, S Amer Riazuddin, J Fielding Hejtmancik, Paul A Sieving, Radha Ayyagari
Retinal dystrophies are a phenotypically and genetically complex group of conditions. Because of this complexity, it can be challenging in many families to determine the inheritance based on pedigree analysis alone. Clinical examinations were performed and blood samples were collected from a North American (M1186) and a consanguineous Pakistani (PKRD168) pedigree affected with two different retinal dystrophies (RD). Based on the structure of the pedigrees, inheritance patterns in the families were difficult to determine...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29684567/human-herpesvirus-6b-hhv-6b-reactivation-is-a-risk-factor-for-grade-2-4-acute-graft-versus-host-disease-agvhd-after-hematopoietic-stem-cell-transplantation-hct-a-systematic-review-and-meta-analysis
#7
REVIEW
Tuan L Phan, Kristen Carlin, Per Ljungman, Ioannis Politikos, Vicki Boussiotis, Michael Boeckh, Michele L Shaffer, Danielle M Zerr
BACKGROUND/OBJECTIVE: Graft-versus-host disease (GVHD) is an important cause of morbidity and mortality following allogeneic hematopoietic cell transplantation (HCT). Many studies have suggested that HHV-6B plays a role in acute GVHD (aGVHD) following HCT. Our objective was to systematically summarize and analyze evidence regarding HHV-6B reactivation and development of aGVHD. METHODS: PubMed and EMBASE databases were searched using terms for HHV-6, HCT, and aGVHD, yielding 865 unique results...
April 20, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29673308/withdrawn-allogeneic-stem-cell-transplantation-in-fanconi-anemia-and-other-inherited-bone-marrow-failure-disorders
#8
(no author information available yet)
Withdrawn by the publisher.
April 19, 2018: Current Drug Targets
https://www.readbyqxmd.com/read/29607838/estimation-of-malondialdehyde-levels-in-serum-and-saliva-of-children-affected-with-sickle-cell-anemia
#9
Sudhindra Baliga, Minal Chaudhary, Sham Bhat, Pooja Bhansali, Akshat Agrawal, Satwik Gundawar
Background: Sickle cell anemia (SCA) is an inherited disorder of hemoglobin synthesis characterized by deformed erythrocytes. Hemoglobin S present in sickle-shaped erythrocytes exhibits an enhanced rate of auto-oxidation compared with normal hemoglobin A. It produces more of reactive oxygen species (ROS) which promotes oxidatively stressed environment. ROS degrade the membranes of sickle cell erythrocytes composed of polyunsaturated lipids and form malondialdehyde (MDA) as a by-product...
January 2018: Journal of the Indian Society of Pedodontics and Preventive Dentistry
https://www.readbyqxmd.com/read/29590102/common-%C3%AE-globin-variants-modify-hematologic-and-other-clinical-phenotypes-in-sickle-cell-trait-and-disease
#10
Laura M Raffield, Jacob C Ulirsch, Rakhi P Naik, Samuel Lessard, Robert E Handsaker, Deepti Jain, Hyun M Kang, Nathan Pankratz, Paul L Auer, Erik L Bao, Joshua D Smith, Leslie A Lange, Ethan M Lange, Yun Li, Timothy A Thornton, Bessie A Young, Goncalo R Abecasis, Cathy C Laurie, Deborah A Nickerson, Steven A McCarroll, Adolfo Correa, James G Wilson, Guillaume Lettre, Vijay G Sankaran, Alex P Reiner
Co-inheritance of α-thalassemia has a significant protective effect on the severity of complications of sickle cell disease (SCD), including stroke. However, little information exists on the association and interactions for the common African ancestral α-thalassemia mutation (-α3.7 deletion) and β-globin traits (HbS trait [SCT] and HbC trait) on important clinical phenotypes such as red blood cell parameters, anemia, and chronic kidney disease (CKD). In a community-based cohort of 2,916 African Americans from the Jackson Heart Study, we confirmed the expected associations between SCT, HbC trait, and the -α3...
March 28, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29587883/elevated-polygenic-burden-for-autism-is-associated-with-differential-dna-methylation-at-birth
#11
Eilis Hannon, Diana Schendel, Christine Ladd-Acosta, Jakob Grove, Christine Søholm Hansen, Shan V Andrews, David Michael Hougaard, Michaeline Bresnahan, Ole Mors, Mads Vilhelm Hollegaard, Marie Bækvad-Hansen, Mady Hornig, Preben Bo Mortensen, Anders D Børglum, Thomas Werge, Marianne Giørtz Pedersen, Merete Nordentoft, Joseph Buxbaum, M Daniele Fallin, Jonas Bybjerg-Grauholm, Abraham Reichenberg, Jonathan Mill
BACKGROUND: Autism spectrum disorder (ASD) is a severe neurodevelopmental disorder characterized by deficits in social communication and restricted, repetitive behaviors, interests, or activities. The etiology of ASD involves both inherited and environmental risk factors, with epigenetic processes hypothesized as one mechanism by which both genetic and non-genetic variation influence gene regulation and pathogenesis. The aim of this study was to identify DNA methylation biomarkers of ASD detectable at birth...
March 28, 2018: Genome Medicine
https://www.readbyqxmd.com/read/29553924/porphyria-what-is-it-and-who-should-be-evaluated
#12
Yonatan Edel, Rivka Mamet
The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Neurovisceral porphyrias are characterized by acute attacks, in which excessive heme production is induced following exposure to a trigger. An acute attack usually presents with severe abdominal pain, vomiting, and tachycardia. Other symptoms which could appear include hypertension, hyponatremia, peripheral neuropathy, and mild mental symptoms...
April 19, 2018: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/29552532/the-use-of-dried-blood-spots-a-potential-tool-for-the-introduction-of-a-neonatal-screening-program-for-sickle-cell-anemia-in-zambia
#13
Nanjela Chindima, Panji Nkhoma, Musalula Sinkala, Mildred Zulu, Doris Kafita, Marah Simakando, Florence Mwaba, Hamakwa Mantina, Mubanga Mutale
Context: Sickle cell disease is a group of hemoglobin (Hb) disorders resulting from the inheritance of the sickle β-globin gene. It is the most common pathological Hb mutation worldwide with 75% being born in Sub-Saharan Africa. Aims: This study aims to determine if dried blood spots (DBSs) can be used for diagnosis of sickle cell in newborns. In Zambia, there is no neonatal screening program for sickle cell anemia (SCA), yet it has been proved that early diagnosis by newborn screening (NBS) using DBSs and access to comprehensive care results in survival to adulthood of over 96% of sickle cell patients...
January 2018: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/29551596/a-review-of-the-immunologic-findings-observed-in-retinitis-pigmentosa
#14
REVIEW
John J McMurtrey, Mark O M Tso
Most patients suffering from retinitis pigmentosa (RP) inherit the disorder; however, the immune-pathologic features associated with this disease have yet to be extensively studied. Six reports correlate anti-retinal immune activity with vision deterioration in RP patients. Some of these patients have sporadic RP that occurs in excess of expected gene segregation during inheritance. The hypothesis that a primary immune-mediated disease process occurs in this sporadic group is supported by significant associations of RP with autoimmune endocrinopathies and other immune related conditions or factors; however, no immunologic difference regarding RP family history is reported in the peripheral blood studies of RP patients...
March 15, 2018: Survey of Ophthalmology
https://www.readbyqxmd.com/read/29548035/specific-storage-of-glycoconjugates-with-terminal-%C3%AE-galactosyl-moieties-in-the-exocrine-pancreas-of-fabry-disease-patients-with-blood-group-b
#15
Jitka Rybová, Ladislav Kuchar, Helena Hulková, Befekadu Asfaw, Robert Dobrovolný, Jakub Sikora, Vladimír Havlícek, Ludovít Škultéty, Jana Ledvinová
Blood group B glycosphingolipids (B-GSLs) are substrates of the lysosomal alpha-galactosidase A (AGAL). Similar to its major substrate - globotriaosylceramide (Gb3Cer) - B-GSLs are not degraded and accumulate in the cells of patients affected by an inherited defect of AGAL activity (Fabry disease - FD).The pancreas is a secretory organ known to have high biosynthesis of blood group GSLs. Herein, we provide a comprehensive overview of the biochemical and structural abnormalities in pancreatic tissue from two male FD patients with blood group B...
March 14, 2018: Glycobiology
https://www.readbyqxmd.com/read/29546732/folate-supplementation-in-people-with-sickle-cell-disease
#16
REVIEW
Ruchita Dixit, Sowmya Nettem, Simerjit S Madan, Htoo Htoo Kyaw Soe, Adinegara Bl Abas, Leah D Vance, Patrick J Stover
BACKGROUND: Sickle cell disease (SCD) is a group of disorders that affects haemoglobin, which causes distorted sickle- or crescent-shaped red blood cells. It is characterized by anaemia, increased susceptibility to infections and episodes of pain. The disease is acquired by inheriting abnormal genes from both parents, the combination giving rise to different forms of the disease. Due to increased erythropoiesis in people with SCD, it is hypothesized that they are at an increased risk for folate deficiency...
March 16, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29542687/sickle-cell-disease
#17
REVIEW
Gregory J Kato, Frédéric B Piel, Clarice D Reid, Marilyn H Gaston, Kwaku Ohene-Frempong, Lakshmanan Krishnamurti, Wally R Smith, Julie A Panepinto, David J Weatherall, Fernando F Costa, Elliott P Vichinsky
Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB, which encodes haemoglobin subunit β. The incidence is estimated to be between 300,000 and 400,000 neonates globally each year, the majority in sub-Saharan Africa. Haemoglobin molecules that include mutant sickle β-globin subunits can polymerize; erythrocytes that contain mostly haemoglobin polymers assume a sickled form and are prone to haemolysis. Other pathophysiological mechanisms that contribute to the SCD phenotype are vaso-occlusion and activation of the immune system...
March 15, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/29487773/abo-blood-group-and-endometrial-carcinoma-a-preliminary-single-center-experience-from-saudi-arabia
#18
Ahmed Abu-Zaid, Mohannad Alsabban, Mohammed Abuzaid, Osama Alomar, Ismail A Al-Badawi, Hany Salem
INTRODUCTION: Inherited ABO blood groups have been shown to play possible contributions in the pathogenesis of various gynecologic and non-gynecologic carcinomas. With regard to gynecologic carcinomas, there is a confined number of studies that explored the relationship between ABO blood group and endometrial carcinoma (EC) in the PubMed-indexed literature. To the best of our knowledge, no such study has ever been conducted in Saudi Arabia. OBJECTIVES: Our study has two objectives: (I) to determine the prevalence of ABO blood groups among Saudi patients with EC, and (II) to explore the relationship between ABO blood group and several clinico-pathological prognostic parameters (namely: menopausal status [age], body mass index [BMI], tumor grade, FIGO [Fédération Internationale de Gynécologie et d'Obstétrique] stage and recurrence) in Saudi patients with EC...
December 18, 2017: Curēus
https://www.readbyqxmd.com/read/29477013/maternal-and-child-human-leukocyte-antigens-in-congenital-cytomegalovirus-infection
#19
Roberta Rovito, Frans H J Claas, Geert W Haasnoot, Dave L Roelen, Aloys C M Kroes, Ann C T M Vossen
Congenital Cytomegalovirus infection (cCMV) is the most common cause of congenital infections worldwide causing permanent long-term impairment (LTI). cCMV immunopathogenesis remains largely unknown due to the complex interplay between viral, maternal, placental and child factors. The aim of this study was to determine the possible role of particular HLA antigens, of the number of HLA mismatches (mm) and non-inherited maternal antigens (NIMAs) in a large retrospective nation-wide cohort of children with cCMV and their mothers...
April 2018: Journal of Reproductive Immunology
https://www.readbyqxmd.com/read/29470342/acog-practice-bulletin-no-192-management-of-alloimmunization-during-pregnancy
#20
(no author information available yet)
When any fetal blood group factor inherited from the father is not possessed by the mother, antepartum or intrapartum fetal-maternal bleeding may stimulate an immune reaction in the mother. Maternal immune reactions also can occur from blood product transfusion. The formation of maternal antibodies, or "alloimmunization," may lead to various degrees of transplacental passage of these antibodies into the fetal circulation. Depending on the degree of antigenicity and the amount and type of antibodies involved, this transplacental passage may lead to hemolytic disease in the fetus and neonate...
March 2018: Obstetrics and Gynecology
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