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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
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Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report
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
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XL Real Muscle
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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
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Oral lichen planus trismus treated with a radiofrequency device: a new instrument in the treatment of oral potentially malignant disorders? [PDF]
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
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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
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
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Congenital hypotonia with favorable outcome
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
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Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
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]
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
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