Results 21 to 30 of about 33,034 (254)

Protective effect and mechanism of Polygonatum kingianum against hypoxia-induced injury

Heliyon, 2023
Background: Hypoxia is an essential cause of fatigue and aging, and is associated with the occurrence and development of many diseases. Polygonatum kingianum (PK) is a deficiency-nourishing Chinese herbal medicine utilized as both medicine and food, and ...
Xue Li, MiJia Mei, XueMei Pu, XiaoJiao Chen, XueFang Li, FanYing Meng, Sen He, JingPing Li, Wen Gu, XingXin Yang, Fan Zhang, Jie Yu   +11 more
doaj   +1 more source

PK‐LR gene mutations in pyruvate kinase deficient Portuguese patients [PDF]

British Journal of Haematology, 1999
In nine unrelated Portuguese patients with pyruvate kinase (PK) deficient anaemia, whose symptoms ranged from a mild chronic haemolytic anaemia to a severe anaemia presenting at birth and requiring multiple transfusions, the PK‐LR gene mutations were identified and correlated with their phenotypes.
L, Manco, M L, Ribeiro, H, Almeida, O, Freitas, A, Abade, G, Tamagnini   +5 more
openaire   +2 more sources

Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency

Haematologica, 2007
Background and Objectives Red blood cell pyruvate kinase (R-PK) deficiency is the most common glycolytic enzyme defect associated with hereditary non-spherocytic hemolytic anemia.
Hitoshi Kanno, Taiju Utsugisawa, Shin Aizawa, Tsutomu Koizumi, Ken-ichi Aisaki, Takako Hamada, Hiromi Ogura, Hisaichi Fujii   +7 more
doaj   +1 more source

OXIDANT-INDUCED INJURY IN PYRUVATE KINASE (PK) DEFICIENT ERYTHROCYTES [PDF]

Pediatric Research, 1974
Oxidant-induced hemolysis, the hallmark of hexose monophosphate (HMP) shunt abnormalities/ generally is not appreciated in PK deficiency. In vitro, however, some patients with PK deficiency manifest oxidant sensitivity (increased sulfhemoglobin formation) in the presence of cyanide (CN) and ascorbate (Asc).
Bertil E Glader, Herbert Schwartz
openaire   +1 more source

Selective Destruction of Reticulocytes (Retics) in Pyruvate Kinase (PK) Deficiency [PDF]

Pediatric Research, 1970
PK retics lack adequate glycolysis and are peculiarly susceptible to irreversible damage in the spleen because they are dependent upon mitochondrial function for which splenic venous PO2 is insufficient [Blood 34: 861, 1969]. The fraction and mass of PK deficient retics immediately trapped in the spleen should therefore influence clinical severity.
William C Mentzer, Lawrence N Button, Stephen H Robinson, David G Nathan   +3 more
openaire   +1 more source

Mortality among US veterans with a physician-documented diagnosis of pyruvate kinase deficiency

Hematology
Real-world studies of pyruvate kinase (PK) deficiency and estimates of mortality are lacking. This retrospective observational study aimed to identify patients with PK deficiency and compare their overall survival (OS) to that of a matched cohort without
Erin Zagadailov, Hanny Al-Samkari, Audra N. Boscoe, Bryan McGee, Sherry Shi, Dendy Macaulay, Lizheng Shi, Viviana Garcia-Horton   +7 more
doaj   +1 more source

Pharmacokinetics and complementary evaluation system-based guidance on prophylaxis of paediatric patients with haemophilia A in China with Kovaltry: protocol of the LEAP study

BMJ Open, 2021
Introduction Haemophilia A is a rare inherited bleeding disease caused by the deficiency of coagulation factor VIII (FVIII). The main treatment protocol is to administer regular exogenous FVIII concentrate infusions.
Yongjun Fang, Min Zhou, Xiaojing Li, Huang Kun, Weiqun Xu, Zhongjin Xu, Changgang Li, Zhenping Chen, Runhui Wu   +8 more
doaj   +1 more source

Free-living competitive racewalkers and runners with energy availability estimates of <35 kcal·kg fat-free mass−1·day−1 exhibit peak serum progesterone concentrations indicative of ovulatory disturbances: a pilot study

Frontiers in Sports and Active Living, 2023
IntroductionThe release of luteinising hormone (LH) before ovulation is disrupted during a state of low energy availability (EA). However, it remains unknown whether a threshold EA exists in athletic populations to trigger ovulatory disturbances ...
M. Carolina Castellanos-Mendoza, Stuart D. R. Galloway, Oliver C. Witard   +2 more
doaj   +1 more source

Fifteen novel mutations inPKLRassociated with pyruvate kinase (PK) deficiency: Structural implications of amino acid substitutions in PK [PDF]

Human Mutation, 2009
Pyruvate kinase (PK) deficiency is a rare disease but an important cause of hereditary nonspherocytic hemolytic anemia. The disease is caused by mutations in the PKLR gene and shows a marked variability in clinical expression. We report on the molecular characterization of 38 PK-deficient patients from 35 unrelated families.
van Wijk, H.A., Huizinga, E.G., van Wesel, A.C.W., van Oirschot - Hermans, B.A., Hadders, M.A., van Solinge, W.W.   +5 more
openaire   +3 more sources

Validation of the Pyruvate Kinase Deficiency Diary (PKDD): A Patient-Reported Outcome Measure for Pyruvate Kinase (PK) Deficiency

Blood, 2021
Abstract Introduction: Pyruvate kinase (PK) deficiency is a rare hereditary disorder characterized by chronic hemolytic anemia and long-term complications such as iron overload, osteoporosis, and pulmonary hypertension. There are no patient-reported outcome (PRO) instruments that are specific for this condition.
Shayna Egan, Erin Zagadailov, Adrian Jewett, Junlong Li, Feng Tai, Audra Boscoe, David A. Andrae   +6 more
openaire   +1 more source