Results 21 to 30 of about 879,135 (289)

Floppy Infant Syndrome: new approach to the study of neonatal hypotonia through the analysis of a rare case of X-Linked Myotubular Myopathy

open access: yesJournal of Pediatric and Neonatal Individualized Medicine, 2014
The Floppy Infant Syndrome includes a variety of signs and symptoms: decrease in muscle tone (hypotonia), in muscle power (weakness) and ligamentous laxity and increased range of joint mobility.
Massimiliano De Vivo   +4 more
doaj   +1 more source

Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report

open access: yesJournal of Behçet Uz Children's Hospital, 2019
The diagnosis of the hypotonia at the neonatal period is difficult. In the neonatal period, the differential must include acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism. Congenital disorders
Sinem Akbay   +7 more
doaj   +1 more source

XL Real Muscle | XL Real Male | XL Real Muscle Gainer

open access: yes, 2021
XL Real Muscl Creatine protein and glutamine are XL Real Muscle Gainer all tested to paintings fabulously that will help you gain muscle tissue speedy Creatine is a evidently generating chemical inside the body.
XL Real Muscle
core   +1 more source

Novel mutation of the FHL1 gene associated with congenital myopathy and early respiratory muscles involvement: a case report

open access: yesJournal of Biochemical and Clinical Genetics, 2020
Background: Congenital myopathies are a diverse group of diseases that share features from the early onset of symptoms in the first year of life, such as hypotonia, muscle weakness, and developmental delays, and are often associated with respiratory ...
Rana Almutairi   +8 more
doaj   +1 more source

Oral lichen planus trismus treated with a radiofrequency device: a new instrument in the treatment of oral potentially malignant disorders? [PDF]

open access: yesWorld Cancer Research Journal, 2022
Objective: To report 2 cases of patients with oral lichen planus (OLP), with involvement of the cheeks, with reduced mouth opening, successfully treated with a single radiofrequency session.
C. Casu, G. Campanella, G. Orrù
doaj   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Hypotonia of the newborn or infant

open access: yes, 2022
Hypotonia of the newborn or infant is defined as decreased resistance to passive movement and is a frequent diagnostic challenge in pediatric practice.
Avila-Smirnow, Daniela   +5 more
core   +1 more source

Congenital hypotonia with favorable outcome

open access: yes, 2002
Congenital hypotonia with favorable outcome is characterized by an early neonatal onset and a benign clinical course. The old term, proposed by Walton, was benign congenital hypotonia, denoting the presence of muscle weakness and hypotonia, with the ...
CRESCENZI A   +3 more
core   +2 more sources

Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression

open access: yesAnnals of Clinical and Translational Neurology, 2021
Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral ...
Atif Towheed   +8 more
doaj   +1 more source

Congenital muscular hypotonia [PDF]

open access: yes, 2018
IMSP Institutul Mamei şi Copilului, Departamentul Pediatrie, USMF „ Nicolae Testemiţanu”Congenital muscular hypotonia is a state of low muscle tone, often involving reduced muscle strength.
Borisova, Ana   +2 more
core   +1 more source

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