Results 71 to 80 of about 894,794 (275)
KBG syndrome: A scoping review of electroclinical features of patients with epilepsy
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini +6 more
wiley +1 more source
Abstract Objective Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive creatine biosynthesis disorder. Reports specifically focusing on adult patients remain scarce. Methods We report a 52‐year‐old female (the oldest documented case of GAMT deficiency to date) presenting with severe intellectual disability, refractory ...
Wei‐Hung Sung +3 more
wiley +1 more source
A model of hemiplegic spasticity based on electromyographical and biomechanical parameters measured during passive muscle stretching is presented. Two components of spasticity can be distinguished - phasic and tonic.
Stefanovska, A. +4 more
core +4 more sources
Neurophysiological Changes in Post Stroke Spasticity Patients
Background: A stroke is a serious life-threatening medical condition that occurs when the blood supply to part of the brain is disrupted. Spasticity is a state, in which, there is an increase in muscle tone or stiffness, which might be associated with ...
Safa M. Fawzi +3 more
doaj +4 more sources
Spasticity or reversible muscle hypertonia?
The increase in resistance to passive muscle stretch in a paretic limb due to an upper motor neurone lesion is often referred to as muscle spasticity. However, this terminology is inaccurate and does not take into account the complex pathogenesis of the condition or describe the factors that contribute to the clinically observed changes in muscle tone.
Abdel Magid O, Bakheit +2 more
openaire +3 more sources
Antibody kinetics against tetanus toxoid before and after primary vaccination of foals
Abstract Background Vaccination recommendations for foals against Clostridium tetani vary. Available studies assessing foal immune responses, maternal antibody interference, or individual variation often used small foal numbers. Objectives To quantify antibody responses after tetanus vaccination in foals and explore associations with passively ...
Katharina Olbrich +2 more
wiley +1 more source
Representation of grass pea consumption in drought‐stricken sub‐Saharan Africa sustains nutrition, but excess β‐ODAP exposure due to multiple reasons triggers neurolathyrism, a progressive neurotoxic disorder. ABSTRACT Neurolathyrism is a progressive motor neuron disease due to the consumption of Lathyrus sativus (grass pea) over long periods.
Biruk Demisse Ayalew +12 more
wiley +1 more source
Molecular Genetic Analysis and Prenatal Diagnosis of a Family With MECP2 Duplication Syndrome
Combined low‐pass CNV‐seq and MLPA identified an inherited Xq28 duplication encompassing MECP2 in a 15‐week male fetus and his affected older brother, transmitted from an asymptomatic mother. This integrated strategy enabled accurate pedigree analysis and prenatal diagnosis of MECP2 duplication syndrome, supporting genetic counseling and reproductive ...
FengQiu Lin +9 more
wiley +1 more source
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Interrater reliability of a modified Ashworth scale of muscle spasticity
We undertook this investigation to determine the interrater reliability of manual tests of elbow flexor muscle spasticity graded on a modified Ashworth scale.
Smith, M. B. +3 more
core +1 more source

