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https://www.readbyqxmd.com/read/29305344/review-and-drug-therapy-implications-of-glucose-6-phosphate-dehydrogenase-deficiency
#1
REVIEW
Kristen D Belfield, Eric M Tichy
PURPOSE: The pathophysiology, diagnosis, and medication-use implications of glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzyme deficiency in humans, are reviewed. SUMMARY: Originally identified as favism in patients who experienced hemolysis after ingestion of fava beans, G6PD deficiency results from an X-linked chromosomal mutation that leads to reduced activity of the enzyme responsible for the final step of the pentose phosphate pathway, through which reduced nicotinamide adenine dinucleotide phosphate required for protection of cells from oxidative stress is produced...
January 5, 2018: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/29298156/favism-and-glucose-6-phosphate-dehydrogenase-deficiency
#2
Lucio Luzzatto, Paolo Arese
No abstract text is available yet for this article.
January 4, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29082022/systematic-review-of-the-clinical-manifestations-of-glucose-6-phosphate-dehydrogenase-deficiency-in-the-greater-mekong-subregion-implications-for-malaria-elimination-and-beyond
#3
Ken Ing Cherng Ong, Hodaka Kosugi, Sophea Thoeun, Hitomi Araki, Moe Moe Thandar, Moritoshi Iwagami, Bouasy Hongvanthong, Paul T Brey, Shigeyuki Kano, Masamine Jimba
INTRODUCTION: To achieve malaria elimination in the Greater Mekong Subregion (GMS) by 2030, proper case management is necessary. 8-aminoquinolines, such as primaquine, are the only available medicines effective in preventing relapse of the hypnozoite stage of Plasmodium vivax, as well as the onward transmission of Plasmodium falciparum. However, primaquine can cause haemolysis in individuals who have glucose-6-phosphate dehydrogenase deficiency (G6PDd). We conducted a systematic review on the reported clinical manifestations of G6PDd to provide a comprehensive overview of the situation in the GMS...
2017: BMJ Global Health
https://www.readbyqxmd.com/read/29062176/supplementation-of-%C3%AE-tocopherol-attenuates-minerals-disturbance-oxidative-stress-and-apoptosis-occurring-in-favism
#4
Khaled M M Koriem, Mahmoud S Arbid, Nawal E Gomaa
The favism is a metabolic disease that characterized with an acute hemolytic anemia where α-tocopherol is a type of tocopherol accumulated inside the human body. The objective of such a study was established to evaluate the effect of α-tocopherol in favism disorders. A total of 75 human cases were divided into 5 groups as follow; group 1 normal cases without any treatment and group 2 normal cases orally administrated α-tocopherol (200 mg/kg) once a day over 30 days period. Group 3 favism patients without any treatment...
October 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28583873/a-trade-off-between-catalytic-activity-and-protein-stability-determines-the-clinical-manifestations-of-glucose-6-phosphate-dehydrogenase-g6pd-deficiency
#5
Usa Boonyuen, Kamonwan Chamchoy, Thitiluck Swangsri, Thanyaphorn Junkree, Nicholas P J Day, Nicholas J White, Mallika Imwong
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common polymorphism and enzymopathy in humans, affecting approximately 400 million people worldwide. It is responsible for various clinical manifestations, including favism, hemolytic anemia, chronic non-spherocytic hemolytic anemia, spontaneous abortion, and neonatal hyperbilirubinemia. Understanding the molecular mechanisms underlying the severity of G6PD deficiency is of great importance but that of many G6PD variants are still unknown. In this study, we report the construction, expression, purification, and biochemical characterization in terms of kinetic properties and stability of five clinical G6PD variants-G6PD Bangkok, G6PD Bangkok noi, G6PD Songklanagarind, G6PD Canton+Bangkok noi, and G6PD Union+Viangchan...
November 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28504635/-favism-after-ingestion-of-fava-beans-in-a-three-year-old-child-with-glucose-6-phosphate-dehydrogenase-deficiency
#6
Margrethe Bordado Sköld, Rikke Pilsgaard Svendsen, Ellen Bøtker Pedersen
A three-year-old Syrian boy was hospitalized with symptoms of acute haemolytic anaemia after ingestion of fava beans. He was stabilized by blood transfusion, and genetic examination revealed glucose-6-phosphate dehydrogenase (G6PD) deficiency. Oxidative stress, e.g. ingestion of fava beans, can induce acute haemolytic anaemia in affected individuals. Approximately 400 million people worldwide suffer from G6PD deficiency. The prevalence is high in African, Mediterranean and Middle East countries. Due to increased immigration, we might expect the condition to occur more often in Danish healthcare...
May 15, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28367976/proteomic-signature-of-muscle-fibre-hyperplasia-in-response-to-faba-bean-intake-in-grass-carp
#7
Er-Meng Yu, Hao-Fang Zhang, Zhi-Fei Li, Guang-Jun Wang, Hong-Kai Wu, Jun Xie, De-Guang Yu, Yun Xia, Kai Zhang, Wang-Bo Gong
Fish muscle growth is important for the rapidly developing global aquaculture industry, particularly with respect to production and quality. Changes in muscle fibre size are accomplished by altering the balance between protein synthesis and proteolysis. However, our understanding regarding the effects of different protein sources on fish muscle proteins is still limited. Here we report on the proteomic profile of muscle fibre hyperplasia in grass carp fed only with whole faba bean. From the results, a total of 99 significantly changed proteins after muscle hyperplasia increase were identified (p < 0...
April 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28059001/possible-association-of-3-utr-357-a-g-ivs11-nt-93-t-c-c-1311-c-t-polymorphism-with-g6pd-deficiency
#8
Mahmoud M Sirdah, Mohammad E Shubair, Mustafa S Al-Kahlout, Jamal M Al-Tayeb, Josef T Prchal, N Scott Reading
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked inherited enzymopathic disorder affecting more than 500 million people worldwide. It has so far been linked to 217 distinct genetic variants in the exons and exon-intron boundaries of the G6PD gene, giving rise to a wide range of biochemical heterogeneity and clinical manifestations. OBJECTIVES: Reports from different settings suggested the association of intronic and other mutations outside the reading frame of the G6PD gene with reduced enzyme activity and presenting clinical symptoms...
July 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27578427/degradation-of-vicine-convicine-and-their-aglycones-during-fermentation-of-faba-bean-flour
#9
Carlo Giuseppe Rizzello, Ilario Losito, Laura Facchini, Kati Katina, Francesco Palmisano, Marco Gobbetti, Rossana Coda
In spite of its positive repercussions on nutrition and environment, faba bean still remains an underutilized crop due to the presence of some undesired compounds. The pyrimidine glycosides vicine and convicine are precursors of the aglycones divicine and isouramil, the main factors of favism, a genetic condition which may lead to severe hemolysis after faba bean ingestion. The reduction of vicine and convicine has been targeted in several studies but little is known about their degradation. In this study, the hydrolysis kinetics of vicine and convicine and their derivatives during fermentation with L...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27519946/favism-the-commonest-form-of-severe-hemolytic-anemia-in-palestinian-children-varies-in-severity-with-three-different-variants-of-g6pd-deficiency-within-the-same-community
#10
N Scott Reading, Mahmoud M Sirdah, Mohammad E Shubair, Benjamin E Nelson, Mustafa S Al-Kahlout, Jamal M Al-Tayeb, Lina N Aboud, Maysaa Abu Shaban, Lucio Luzzatto, Josef T Prchal
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic abnormality known to predispose to acute hemolytic anemia (AHA), which can be triggered by certain drugs or infection. However, the commonest trigger is fava beans (Vicia faba) ingestion, causing AHA (favism), which may be life-threatening especially in children. G6PD deficiency is genetically highly heterogeneous, as nearly 200 different mutations have been observed. We have investigated the hematological features of acute favism in the Palestinian Gaza community that is characterized by the polymorphic coexistence of three different G6PD deficiency genes (G6PD A-, G6PD Cairo, G6PD Med)...
September 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27374500/determination-and-stability-of-divicine-and-isouramil-produced-by-enzymatic-hydrolysis-of-vicine-and-convicine-of-faba-bean
#11
Marjo Pulkkinen, Xiao Zhou, Anna-Maija Lampi, Vieno Piironen
The aglycones of vicine and convicine, divicine and isouramil, are the causative agents of favism and, therefore, should be analysed along with vicine and convicine in research seeking to eliminate them. This study investigated the stability of the aglycones produced by hydrolysis with β-glucosidase. Reversed-phase, high-performance liquid chromatography (HPLC) with UV detection was shown to be able to observe both aglycone formation and further reactions in isolated fractions and extract made from faba bean and in faba bean suspension...
December 1, 2016: Food Chemistry
https://www.readbyqxmd.com/read/27345785/human-embryonic-stem-cells-derived-from-abnormal-blastocyst-donated-by-glucose-6-phosphate-dehydrogenase-deficiency-patient
#12
Hao Zhou, Xiaoying Zhou, Qingqing Yang, Long Li, Juan Du, Guangxiu Lu, Ge Lin, Qi Ouyang
A human embryonic stem cell (hESC) line was derived from abnormal embryo donated by Glucose-6-phosphate dehydrogenase (G6PD) deficiency patient. Sequencing analysis confirmed that the hESC line possessed the mutant contributing to abnormal expression of G6PD. Further characteristic analysis demonstrated that the favism hESC line maintained stable and normal karyotype, expressed pluripotent markers and had the capacity of generating the derivatives from all three germ layers.
January 2016: Stem Cell Research
https://www.readbyqxmd.com/read/26981882/gas-chromatography-mass-spectrometry-based-metabolomic-profiling-reveals-alterations-in-mouse-plasma-and-liver-in-response-to-fava-beans
#13
Man Xiao, Guankui Du, Guobing Zhong, Dongjing Yan, Huazong Zeng, Wangwei Cai
Favism is a life-threatening hemolytic anemia resulting from the intake of fava beans by susceptible individuals with low erythrocytic glucose 6-phosphate dehydrogenase (G6PD) activity. However, little is known about the metabolomic changes in plasma and liver after the intake of fava beans in G6PD normal and deficient states. In this study, gas chromatography/mass spectrometry was used to analyze the plasma and liver metabolic alterations underlying the effects of fava beans in C3H- and G6PD-deficient (G6PDx) mice, and to find potential biomarkers and metabolic changes associated with favism...
2016: PloS One
https://www.readbyqxmd.com/read/26745557/the-protective-role-of-anise-oil-in-oxidative-stress-and-genotoxicity-produced-in-favism
#14
Khaled M M Koriem, Mahmoud S Arbid, Nadia F El-Gendy
The metabolic disease favism is an acute hemolytic anemia. Anise oil was obtained from Pimpinella anisum L. seeds (family Apiaceae). The objective of this study was to establish the protective effect of anise oil in favism disorders. Forty-eight male albino rats were divided into six groups: group 1 orally administrated 1 mL distilled water, group 2 orally received 300 mg/kg anise oil, and group 3 orally administrated 100 mg/kg anethole over a seven-day period, group 4 favism-induced rats, group 5 orally administrated 300 mg/kg anise oil and group 6 orally administrated 100 mg/kg anethole once a day over a seven-day period prior to favism induction...
2016: Journal of Dietary Supplements
https://www.readbyqxmd.com/read/26435857/dental-considerations-in-children-with-glucose-6-phosphate-dehydrogenase-deficiency-favism-a-review-of-the-literature-and-case-report
#15
Daniela Hernández-Pérez, Claudia Butrón-Téllez Girón, Socorro Ruiz-Rodríguez, Arturo Garrocho-Rangel, Amaury Pozos-Guillén
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an uncommon inherited enzyme deficiency characterized by hemolytic anemia, caused by the inability of erythrocytes to detoxify oxidizing agents such as drugs, infectious diseases, or fava bean ingestion. In this later case, the disorder is known as favism. The aim of the present report was to present a review of the literature in this disease, to describe a case report concerning an affected 9-year-old male, and to review the main implications and precautions in pediatric dental management...
2015: Case Reports in Dentistry
https://www.readbyqxmd.com/read/25339475/identification-of-mediterranean-mutation-in-egyptian-favism-patients
#16
H G Osman, F M Zahran, A M A El-Sokkary, A El-Said, A M Sabry
OBJECTIVES: Identify and screen the G6PD Mediterranean mutation in favism patients by applying a Amplification Refractory Mutation System Polymerase Chain Reaction (ARMS-PCR). PATIENTS AND METHODS: A total of 114 unrelated Egyptians patients were included in the present study; their ages ranged between (2-9) years with male to female ratio 4.5:1. G6PD activity was determined qualitatively from red cell hemolysate during attack. The G6PD Mediterranean mutation in patients has been identified by ARMS-PCR...
October 2014: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/25079187/-glucose-6-phosphate-dehydrogenase-deficiency-in-children-a-case-report
#17
Patricia Verdugo L, Marlene Calvanese T, Diego Rodríguez V, Cassandra Cárcamo C
INTRODUCTION: Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is the most common red blood cell (RBC) enzyme disorder. The decrease as well as the absence of the enzyme increase RBC vulnerability to oxidative stress caused by exposure to certain medications or intake of fava beans. Among the most common clinical manifestations of this condition, acute hemolysis, chronic hemolysis, neonatal hyperbilirubinemia, and an asymptomatic form are observed. OBJECTIVE: To analyze the case of a child who presented hemolytic crisis due to favism...
February 2014: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/25002925/medical-expenses-of-patients-with-favism-admitted-to-17th-shahrivar-hospital-compared-to-g6pd-enzyme-screening-cost-in-north-of-iran
#18
B Darbandi, M Noghbaei, F Mehrabian, M Jafroodi
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency is one of the prevalent disorders in Guilan province, northern Iran, causing many patients to suffer from acute hemolysis. This disease has imposed tremendous costs both on patients and Health systems. The aim of this study was to compare the direct costs of favism treatment on patients and health system with G6PD enzyme screening test. MATERIALS AND METHODS: In this descriptive prospective study, the medical and hospital costs of acute hemolysis due to G6PD deficiency were calculated and compared with the expenses of screening newly born infants for this disorder in Rasht...
2014: Iranian Journal of Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/24575273/g6pd-enzyme-deficiency-in-neonatal-pathologic-hyperbilirubinemia-in-yazd
#19
M Pahlavanzadeh, S Hekmatimoghaddam, M Teremahi Ardestani, M Ghafoorzadeh, Mm Aminorraaya
BACKGROUND: About 7.5% of the world population carries one or two deficient copy of glucose-6-phosphate dehydrogenase (G6PD) genes. According to WHO, its prevalence in Iran is 10 to 14.9%. This study aimed on determination of frequency of G6PD deficiency in neonates with jaundice who were hospitalized during 6 months (September 2008 to February 2009) in the city of Yazd, Iran. MATERIALS AND METHODS: In this study, 105 icteric neonates in the hospitals of Yazd were evaluated...
2013: Iranian Journal of Pediatric Hematology and Oncology
https://www.readbyqxmd.com/read/24568147/clinical-complications-of-g6pd-deficiency-in-latin-american-and-caribbean-populations-systematic-review-and-implications-for-malaria-elimination-programmes
#20
REVIEW
Wuelton M Monteiro, Gabriel P Franca, Gisely C Melo, Amanda L M Queiroz, Marcelo Brito, Henry M Peixoto, Maria Regina F Oliveira, Gustavo A S Romero, Quique Bassat, Marcus V G Lacerda
BACKGROUND: Although G6PDd individuals are generally asymptomatic throughout their life, the clinical burden of this genetic condition includes a range of haematological conditions, including acute haemolytic anaemia (AHA), neonatal jaundice (NNJ) and chronic non-sphaerocytic anaemia (CNSA). In Latin America (LA), the huge knowledge gap regarding G6PDd is related to the scarce understanding of the burden of clinical manifestation underlying G6PDd carriage. The aim of this work was to study the clinical significance of G6PDd in LA and the Caribbean region through a systematic review...
2014: Malaria Journal
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