Results 91 to 100 of about 570,477 (309)

Combined sciatic femoral nerve block in a case of restrictive cardiomyopathy for arthroscopy and anterior cruciate ligament (ACL) reconstruction

Indian Journal of Anaesthesia, 2007
Restrictive cardiomyopathy is a rare heart muscle disease resulting in impaired ventricular filling, low cardiac output and a propensity for development of heart failure with minimal fluid overload.
Gaurab Maitra, Palas Kumar, Saikat Sengupta, A Rudra   +3 more
doaj  

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai, Sara A. Elsbecker, Grace Bronken McCarthy, Kaitlin Weisshappel, Peter Karachunski, Fernando Scaglia   +5 more
wiley   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Abnormal Cardiovascular Responses During Orthostatic Hypotension in Cardiac Amyloidosis Revealed by Semi-Sitting/Standing Stress Echocardiography

JACC: Case Reports
Background: Mechanisms of orthostatic hypotension (OH) in cardiac amyloidosis (CA) patients remain largely unclarified. Case Summary: We performed semi-sitting/standing stress echocardiography in 6 healthy volunteers, 5 patients with CA but without OH ...
Mai Iwataki, MD, Hajime Miki, MD, Takeshi Onoue, MD, Yasufumi Nagata, MD, Robert A. Levine, MD, Yutaka Otsuji, MD, Masaharu Kataoka, MD   +6 more
doaj   +1 more source

Peculiar Clinical Presentation of Coxsackievirus B4 Infection: Neonatal Restrictive Cardiomyopathy

American Journal of Perinatology Reports, 2017
Introduction Restrictive cardiomyopathy in fetuses and neonates is extremely rare and has a poor outcome. Its etiology in neonates is elusive: metabolic diseases (e.g., Gaucher, Hurler syndrome), neuromuscular disorders (e.g., muscular dystrophies ...
Pauline Le Van Quyen, Philippe Desprez, Angelo Livolsi, Véronique Lindner, Samira Fafi-Kremer, Pauline Helms, Maria Cristina Antal   +6 more
doaj   +1 more source

A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)

BMC Medical Genetics, 2019
BackgroundRestrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form.Case presentationHere we describe a female proband with a severely manifested ...
M. Pantou, P. Gourzi, A. Gkouziouta, I. Armenis, L. Kaklamanis, C. Zygouri, P. Constantoulakis, S. Adamopoulos, D. Degiannis   +8 more
semanticscholar   +1 more source

A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern

, 2012
Kazunori Otsui, Nobutaka Inoue, Anna Tamagawa, Kazuo OnishiDepartment of Cardiovascular Medicine, Kobe Rosai Hospital, Kobe, JapanAbstract: A 61-year-old diabetic woman with a mitochondrial A3243G mutation was hospitalized for evaluation of ...
Inoue N, Tamagawa A, Otsui K, Onishi K   +2 more
core  

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

American 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, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

The clinical, electrocardiographic and echocardiographic features and long-term outcome of patients with Tachycardia-induced cardiomyopathy [PDF]

, 2010
Includes abstract.Includes bibliographical references.Tachycardia-induced cardiomyopathy (TIC) is a reversible cause of LV systolic dysfunction that can complicate any supraventricular or ventricular tachyarrhythmia.
Chin, Ashley
core   +1 more source

De novo mutations in FLNC leading to early‐onset restrictive cardiomyopathy and congenital myopathy

Human Mutation, 2018
Mutations in FLNC for a long time are known in connection to neuromuscular disorders and only recently were described in association with various cardiomyopathies.
A. Kiselev, Raquel Vaz, A. Knyazeva, A. Khudiakov, S. Tarnovskaya, Jiao Liu, A. Sergushichev, S. Kazakov, D. Frishman, N. Smolina, T. Pervunina, John Jorholt, G. Sjöberg, T. Vershinina, D. Rudenko, A. Arner, T. Sejersen, A. Lindstrand, A. Kostareva   +18 more
semanticscholar   +1 more source