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Red cell disorders

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https://www.readbyqxmd.com/read/29226019/absence-of-acanthocytosis-in-huntington-s-disease-like-2-a-prospective-comparison-with-huntington-s-disease
#1
David G Anderson, Sergio Carmona, Kubendran Naidoo, Theresa L Coetzer, Jonathan Carr, Dobrila D Rudnicki, Ruth H Walker, Russell L Margolis, Amanda Krause
Background: Huntington's Disease-like 2 (HDL2) is classified as a neuroacanthocytosis; however, this remains unverified. We aim to determine if acanthocytes are present in HDL2 and whether acanthocytes can differentiate HDL2 from Huntington's disease (HD). Methods: We prospectively compared 13 HD and 12 HDL2 cases against 21 unaffected controls in Johannesburg. Blood smears were prepared using international standards and reviewed by at least two blinded reviewers...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29210083/a-novel-association-between-high-red-blood-cell-alloimmunization-rates-and-hereditary-hemorrhagic-telangiectasia
#2
Yan Zheng, Jeffrey Pollak, Katharine Henderson, Jeanne E Hendrickson, Christopher A Tormey
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder associated with multiple arteriovenous malformations. HHT patients may require red blood cell (RBC) transfusion due to spontaneous hemorrhage or surgical bleeding. Because HHT-associated hemorrhage often occurs in submucosa we hypothesized that RBC alloimmunization rates in HHT patients may be higher than those observed in other transfused patients and investigated this in a retrospective study. STUDY DESIGN AND METHODS: Eighty-five patients with HHT who were transfused at our tertiary care facility were identified...
December 6, 2017: Transfusion
https://www.readbyqxmd.com/read/29207881/sickle-cell-disease-a-malady-beyond-a-hemoglobin-defect-in-cerebrovascular-disease
#3
Junaid Ansari, Youmna E Moufarrej, Rafal Pawlinski, Felicity N E Gavins
Sickle cell disease (SCD) is a devastating monogenic disorder that presents as a multisystem illness and affects approximately 100,000 individuals in the United States alone. SCD management largely focuses on primary prevention, symptomatic treatment and targeting of hemoglobin polymerization and red blood cell sickling. Areas covered: This review will discuss the progress of SCD over the last few decades, highlighting some of the clinical (mainly cerebrovascular) and psychosocial challenges of SCD in the United States...
December 5, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/29207715/a-correlative-study-between-platelet-count-mean-platelet-volume-and-red-cell-distribution-width-with-the-disease-severity-index-in-psoriasis-patients
#4
Vijayashree Raghavan, Rajesh Kanna Nandagopal Radha, Ramesh K Rao, Abinaya Kuberan
Introduction: Platelet activation is presumed to play an important role in the immunoinflammatory reactions. Several recent studies on a variety of inflammatory disorders have used Mean Platelet Volume (MPV) as a marker for platelet activation. Aim: To determine the relationship between haematological parameters and disease severity index in psoriasis patients. Materials and Methods: A Case control study was carried out on 50 psoriatic patients and 50 healthy control subjects...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29200155/a-case-of-congenital-dyserythropoeitic-anemia-type-iv-caused-by-e325k-mutation-in-erythroid-transcription-factor-klf1
#5
Rebecca Ortolano, Melissa Forouhar, Anne Warwick, David Harper
Congenital dyserythropoetic anemias (CDA) represent a heterogeneous group of inherited red cell disorders resulting in ineffective erythropoiesis. Several CDA variants have been identified. KLF1 is a transcription factor required for cell division in erythroid differentiation and maturation, and the switch from fetal to adult hemoglobin. Mutations in KLF1 gene can result in a wide range of phenotypes. This case illustrates the E325K mutation in KLF1 presenting with severe anemia in infancy, persistently elevated fetal hemoglobin, and progressive improvement with age...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29195602/reduction-of-body-iron-in-hfe-related-haemochromatosis-and-moderate-iron-overload-mi-iron-a-multicentre-participant-blinded-randomised-controlled-trial
#6
Sim Y Ong, Lyle C Gurrin, Lara Dolling, Jeanette Dixon, Amanda J Nicoll, Michelle Wolthuizen, Erica M Wood, Gregory J Anderson, Grant A Ramm, Katrina J Allen, John K Olynyk, Darrell Crawford, Louise E Ramm, Paul Gow, Simon Durrant, Lawrie W Powell, Martin B Delatycki
BACKGROUND: The iron overload disorder hereditary haemochromatosis is most commonly caused by HFE p.Cys282Tyr homozygosity. In the absence of results from any randomised trials, current evidence is insufficient to determine whether individuals with hereditary haemochromatosis and moderately elevated serum ferritin, should undergo iron reduction treatment. This trial aimed to establish whether serum ferritin normalisation in this population improved symptoms and surrogate biomarkers. METHODS: This study was a multicentre, participant-blinded, randomised controlled trial done at three centres in Australia...
December 2017: Lancet Haematology
https://www.readbyqxmd.com/read/29189537/bipolar-sealer-devices-used-in-posterior-spinal-fusion-for-neuromuscular-scoliosis-reduce-blood-loss-and-transfusion-requirements
#7
Christina K Hardesty, Zachary L Gordon, Connie Poe-Kochert, Jochen P Son-Hing, George H Thompson
BACKGROUND: Reducing perioperative blood loss and the need for transfusions in patients undergoing spinal surgery is especially important for those with neuromuscular disorders. These patients require extensive spino-pelvic exposure and are often medically fragile. We have used Amicar to decrease blood loss since 2001. As an effort to further reduce blood loss and transfusions, we use a bipolar sealer device (Aquamantys) as an adjunct to electrocautery. We present the results of our first 64 neuromuscular patients to show the efficacy of the device...
November 16, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29181452/prevalences-of-inherited-red-blood-cell-disorders-in-pregnant-women-of-different-ethnicities-living-along-the-thailand-myanmar-border
#8
Germana Bancone, Mary Ellen Gilder, Nongnud Chowwiwat, Gornpan Gornsawun, Elsi Win, Win Win Cho, Eh Moo, Aung Myat Min, Prakaykaew Charunwatthana, Verena I Carrara, Nicholas J White, Francois Nosten, Rose McGready
Background: Inherited red blood cell disorders are prevalent in populations living in malaria endemic areas; G6PD deficiency is associated with oxidant-induced haemolysis and abnormal haemoglobin variants may cause chronic anaemia. In pregnant women, microcytic anaemia caused by haemoglobinopathies mimics iron deficiency, complicating diagnosis and treatment. Anaemia during pregnancy is associated with morbidity and mortality. The aim of this study was to characterise the prevalence of G6PD deficiency and haemoglobinopathies  among the pregnant population living along the Thailand-Myanmar border...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/29180398/inhibition-of-heme-oxygenase-ameliorates-anemia-and-reduces-iron-overload-in-%C3%AE-thalassemia-mouse-model
#9
Daniel Garcia-Santos, Amel Hamdi, Zuzana Saxova, Carine Fillebeen, Kostas Pantopoulos, Monika Horvathova, Prem Ponka
Thalassemias are a heterogeneous group of red blood cell disorders, considered as major cause of morbidity and mortality among genetic diseases. However, there is still no universally available cure for thalassemias. The underlying basis of thalassemia pathology is the premature apoptotic destruction of erythroblasts causing ineffective erythropoiesis. In β-thalassemia, β-globin synthesis is reduced causing α-globin accumulation. Unpaired globin chains, with heme attached to them, accumulate in thalassemic erythroblasts causing oxidative stress and the premature cell death...
November 27, 2017: Blood
https://www.readbyqxmd.com/read/29174474/iron-overload-in-hematological-disorders
#10
Eitan Fibach, Eliezer A Rachmilewitz
While most common symptom of impairment of iron homeostasis is iron deficiency anemia, some hematological disorders are associated with iron overload (IO). These disorders are related mainly to chronic severe hemolytic anemia, where red blood cells (RBC) or their precursors are destroyed prematurely (hemolyzed), leading to anemia that cannot be compensated by increased production of new RBC. In such cases, IO is mainly due to repeated RBC transfusions and/or increased uptake of iron in the gastrointestinal tract...
November 22, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29169588/changes-in-hormonal-and-metabolic-parameters-in-transgender-subjects-on-cross-sex-hormone-therapy-a-cohort-study
#11
Roberto Vita, Salvatore Settineri, Marco Liotta, Salvatore Benvenga, Francesco Trimarchi
OBJECTIVES: Gender identity disorder is defined as a strong and persistent cross-gender identification that is associated with a remarkable uneasiness of living in an incongruent gender (gender dysphoria). We performed a retrospective study on the hormonal and metabolic effects of cross-sex hormone therapy (CSHT) in a small cohort of transgender patients. STUDY DESIGN: Retrospective study. MEAN OUTCOME MEASURES: Hormonal and biochemical parameters at baseline (i...
January 2018: Maturitas
https://www.readbyqxmd.com/read/29167126/chronic-lung-injury-and-impaired-pulmonary-function-in-a-mouse-model-of-acid-ceramidase-deficiency
#12
Fabian Ps Yu, Diana Islam, Jakub Sikora, Shaalee Dworski, Jiří Gurka', Lucia Lopez-Vasquez, Mingyao Liu, Wolfgang Michael Kuebler, Thierry Levade, Haibo Zhang, Jeffrey A Medin
Farber Disease (FD) is a debilitating Lysosomal Storage Disorder (LSD) caused by a deficiency of acid ceramidase (ACDase) activity due to mutations in the gene ASAH1. Patients with ACDase deficiency may develop a spectrum of clinical phenotypes. Severe cases of FD are frequently associated with neurological involvement, failure to thrive, and respiratory complications. Mice homozygous (Asah1P361R/P361R) for an orthologous patient mutation in Asah1 recapitulate human FD. In this study, we show significant impairment in lung function including low compliance and increased airway resistance in a mouse model of ACDase deficiency...
November 22, 2017: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/29166365/cdc-grand-rounds-improving-the-lives-of-persons-with-sickle-cell-disease
#13
Mary Hulihan, Kathryn L Hassell, Jean L Raphael, Kim Smith-Whitley, Phoebe Thorpe
Approximately 100,000 Americans have sickle cell disease (SCD), a group of recessively inherited red blood cell disorders characterized by abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in the red blood cells. Persons with hemoglobin SS or hemoglobin Sß0 thalassemia, also known as sickle cell anemia (SCA), have the most severe form of SCD. Hemoglobin SC disease and hemoglobin Sß+ thalassemia are other common forms of SCD. Red blood cells that contain sickle hemoglobin are inflexible and can stick to vessel walls, causing a blockage that slows or stops blood flow...
November 24, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29163147/chronic-psychological-stress-was-not-ameliorated-by-omega-3-eicosapentaenoic-acid-epa
#14
Joanne Bradbury, Stephen P Myers, Barbara Meyer, Lyndon Brooks, Jonathan Peake, Andrew J Sinclair, Con Stough
Background: Chronic psychological stress and mental health disorders are endemic in Western culture where population dietary insufficiencies of omega-3 fatty acids (n-3FA) from seafood have been observed. Objective: This study was designed to test for a causal relationship between one of the most active components of fish oil, eicosapentaenoic acid (EPA), and chronic psychological stress. Method: A randomized double-blind, placebo-controlled clinical trial with parallel-assignment to two groups was designed (Trial Id: ACTRN12610000404022)...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29163049/tagging-of-endogenous-bk-channels-with-a-fluorogen-activating-peptide-reveals-%C3%AE-4-mediated-control-of-channel-clustering-in-cerebellum
#15
Christopher P Pratt, Dika A Kuljis, Gregg E Homanics, Jianjun He, Dmytro Kolodieznyi, Srikanth Dudem, Mark A Hollywood, Alison L Barth, Marcel P Bruchez
BK channels are critical regulators of neuronal activity, controlling firing, neurotransmitter release, cerebellar function, and BK channel mutations have been linked to seizure disorders. Modulation of BK channel gating is well characterized, regulated by accessory subunit interactions, intracellular signaling pathways, and membrane potential. In contrast, the role of intracellular trafficking mechanisms in controlling BK channel function, especially in live cells, has been less studied. Fluorogen-activating peptides (FAPs) are well-suited for trafficking and physiological studies due to the binding of malachite green (MG)-based dyes with sub-nanomolar affinity to the FAP, resulting in bright, photostable, far-red fluorescence...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29160035/mosaic-uniparental-disomy-results-in-gm1-gangliosidosis-with-normal-enzyme-assay
#16
Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer
Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by homozygous GLB1 mutations, resulting in β-galactosidase deficiency. A 10-year-old girl had progressive neurologic deterioration, macular cherry-red spot, and cornea verticillata...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159826/pharmacological-and-molecular-approaches-for-the-treatment-of-%C3%AE-hemoglobin-disorders
#17
REVIEW
Neelam Lohani, Nupur Bhargava, Anjana Munshi, Sivaprakash Ramalingam
β-hemoglobin disorders, such as β-thalassemia and sickle cell anemia are among the most prevalent inherited genetic disorders worldwide. These disorders are caused by mutations in the gene encoding hemoglobin-β (HBB), a vital protein found in red blood cells (RBCs) that carries oxygen from lungs to all parts of the human body. As a consequence, there has been an enduring interest in this field in formulating therapeutic strategies for the treatment of these diseases. Currently, there is no cure available for hemoglobin disorders, although, some patients have been treated with bone marrow transplantation, whose scope is limited because of the difficulty in finding a histocompatible donor and also due to transplant-associated clinical complications that can arise during the treatment...
November 20, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29155855/iron-status-and-anaemia-in-sri-lankan-secondary-school-children-a-cross-sectional-survey
#18
Angela Allen, Stephen Allen, Rexan Rodrigo, Lakshman Perera, Wei Shao, Chao Li, Duolao Wang, Nancy Olivieri, David J Weatherall, Anuja Premawardhena
BACKGROUND: Iron deficiency, the most common micronutrient disorder and cause of anaemia globally, impairs growth, cognition, behaviour and resistance to infection. METHODS/RESULTS: As part of a national survey of inherited haemoglobin variants in 7526 students from 72 secondary schools purposefully selected from the 25 districts of Sri Lanka, we studied 5912 students with a normal haemoglobin genotype. Median age was 16.0 (IQR 15.0-17.0) years and 3189 (53.9%) students were males...
2017: PloS One
https://www.readbyqxmd.com/read/29152645/mir-214-promotes-periodontal-ligament-stem-cell-osteoblastic-differentiation-by-modulating-wnt-%C3%AE-%C3%A2-catenin-signaling
#19
Fengdi Cao, Jialin Zhan, Xufeng Chen, Kai Zhang, Renfa Lai, Zhiqiang Feng
The canonical Wnt/β‑catenin signaling is important in the differentiation of human mesenchymal stem cells into osteoblasts. Accumulating evidence suggests that the expression of β‑catenin is, in part, regulated by specific microRNAs (miRNAs). The aim of the present study was to investigate the putative roles of miRNAs in osteoblast differentiation. Polymerase chain reaction (PCR) arrays were used to identify miRNAs that were differentially expressed between differentiated and non‑differentiated periodontal ligament stem cells (PDLSCs), and reverse transcription‑quantitative PCR (RT‑qPCR) was used for validation...
October 19, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29150843/liver-fibrosis-is-associated-with-cutaneous-inflammation-in-the-imiquimod-induced-murine-model-of-psoriasiform-dermatitis
#20
P Vasseur, M Pohin, J F Jégou, L Favot, N Venisse, J Mcheik, F Morel, J C Lecron, C Silvain
BACKGROUND: Psoriasis associates several extra-cutaneous manifestations. Little is known about hepatic parameters specifically associated with psoriasis. OBJECTIVE: To study whether psoriasiform dermatitis is associated with liver injury. METHODS: We studied liver parameters of inflammation and fibrosis in a murine model of psoriasiform dermatitis induced by topical application of imiquimod for nine weeks. RESULTS: Topical treatment with imiquimod induced a form of psoriasiform dermatitis reminiscent of the human disorder, characterized by thickened and scaly skin, psoriasiform epidermal hyperplasia, altered keratinocyte differentiation, and cutaneous overexpression of interleukin-17A...
November 18, 2017: British Journal of Dermatology
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