Results 101 to 110 of about 147,775 (297)

A proposed role for sepsis in the pathogenesis of myocardial calcification [PDF]

open access: yes, 2017
Myocardial calcification is a rare and life-threatening condition that is a recognised complication of ischaemic heart disease, cardiac surgery, rheumatic fever and myocarditis.
AROMATARIO, MARIAROSARIA   +7 more
core   +1 more source

Stress-Induced Cardiomyopathy

open access: yes, 2023
The irreversible termination of individual life activities and metabolism means all fatal problems ultimately terminate the heart function. It’s very important to protect the patient’s life if we have treatment to maintain heart function and care about patients’ heart response.
J., Wen, ke, S., Radhakrishnan, Ravi
openaire   +2 more sources

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen   +5 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta   +17 more
wiley   +1 more source

Deletion of low molecular weight protein tyrosine phosphatase (Acp1) protects against stress-induced cardiomyopathy. [PDF]

open access: yes, 2015
The low molecular weight protein tyrosine phosphatase (LMPTP), encoded by the ACP1 gene, is a ubiquitously expressed phosphatase whose in vivo function in the heart and in cardiac diseases remains unknown.
Al-Habeeb, Waleed   +20 more
core   +2 more sources

Stress-induced cardiomyopathy

open access: yesHeart - Lung (Varna), 2018
В кардиологична клиника постъпва 70-годишна жена с гръдна болка. Ангинозният характер на болката, наличните ЕКГ промени и дискинезия на сърдечния връх насочват към остър коронарен синдром. Проведената коронарна ангиография не установява промени в епикардните съдове. След няколко дни настъпва пълно възстановяване на кинетиката.
Tanya Stefanova   +3 more
openaire   +2 more sources

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Mitochondrial Dysfunction in Aging and Diseases of Aging. [PDF]

open access: yes, 2019
Mitochondria have been increasingly recognized as the important players in the aging process [...]
Haas, Richard H
core   +2 more sources

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco   +2 more
wiley   +1 more source

Broken Heart Syndrome: Is The Heart Really Broken?

open access: yesOnline Journal of Health & Allied Sciences, 2016
Stress induced cardiomyopathy, which is also known as Takotsubo cardiomyopathy, is a cardiac syndrome of a transient, reversible left ventricular dysfunction that is caused by emotional and/or physical stress.
Mallya D   +4 more
doaj  

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