Results 121 to 130 of about 116,069 (304)

Therapeutic drug monitoring of antimicrobials in a paediatric setting: A retrospective single‐centre study

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Aims Paediatric pharmacokinetics differ significantly from adults due to age‐related physiological changes, necessitating precise dose adjustments. However, data on therapeutic drug monitoring (TDM) implementation in paediatric setting remain limited.
Gianluca Gazzaniga   +20 more
wiley   +1 more source

Pharmacovigilance analysis of myopathy associated with azoles and nonstatins interactions based on US FAERS database

open access: yesScientific Reports
Azoles are first-line antifungal agents known to increase the risk of statin-related myopathy due to drug interactions. However, myopathy events have also been observed in patients using azoles without concurrent statin use, suggesting that azoles may be
Shen’ao Jing   +8 more
doaj   +1 more source

SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA AND CONGENITAL MYOPATHIES

open access: yes, 2009
This PhD thesis has been focused on the identification and functional characterization of sequence variants in the RYR1 gene, associated with Malignant hyperthermia (MH) and some congenital myopathies (CMs).
Perrotta, Giuseppa
core  

distal myopathy [PDF]

open access: yes, 2001
Although muscle disease classically presents with proximal extremity weakness, some myopathic disorders, including several types of muscular dystrophy, result in predominantly, or exclusively, distal muscle involvement.
박윤길
core  

Patients on statins with elevated transaminases: Frequency of follow‐up creatine kinase testing and gastroenterology referral

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Purpose To quantify how often creatine kinase (CK) is measured after newly elevated aminotransferases in statin users, and whether absent CK data are associated with gastroenterology (GI) referrals. Methods Retrospective chart review of adult outpatients on statins with a first alanine/aspartate aminotransferase (ALT/AST) elevation during a 5 ...
Faris Shweikeh   +5 more
wiley   +1 more source

Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell   +3 more
wiley   +1 more source

Monoclonal gammopathy of undetermined significance with associated necrotizing myopathy: a case report and review of the literature

open access: yesEuropean Journal of Case Reports in Internal Medicine
Background: Monoclonal gammopathies encompass many types of plasma cell proliferative disorders ranging from benign to malignant. Monoclonal gammopathies that meet diagnostic criteria for monoclonal gammopathies of undetermined significance (MGUS) but ...
Anna Bode   +3 more
doaj   +1 more source

'Cap myopathy' : case report of a family

open access: yes, 2006
We report the observation of an 18-year-old girl, whose clinical presentation was very suggestive of a congenital myopathy with neonatal onset. A congenital myopathy had been already diagnosed in her brother and in addition her half-cousin died diagnosed
Barois, A.,   +7 more
core   +1 more source

Secretopathies emerge as a new class of neurocristopathies

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira   +3 more
wiley   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard   +3 more
wiley   +1 more source

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