Results 81 to 90 of about 1,566,168 (324)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Botulinum toxin treatment of lower extremity spasticity

Нервно-мышечные болезни, 2017
The article reviews the current concept of lower extremity spasticity, which is a frequent disabling consequence of stroke. Gait biomechanics, step cycle and main pathologic patterns of lower extremity are described (hip adduction, knee flexion, knee ...
S. E. Khat’kova, M. A. Akulov, O. R. Orlova, D. Yu. Usachev, A. S. Orlova, L. V. Krylova   +5 more
doaj   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Cuneiform Nucleus Stimulation Can Assist Gait Training to Promote Locomotor Recovery in Individuals With Incomplete Tetraplegia

Annals of Neurology, EarlyView.
Objective Impaired ability to induce stepping after incomplete spinal cord injury (SCI) can limit the efficacy of locomotor training, often leaving patients wheelchair‐bound. The cuneiform nucleus (CNF), a key mesencephalic locomotor control center, modulates the activity of spinal locomotor centers via the reticulospinal tract.
Anna‐Sophie Hofer, Lennart H. Stieglitz, Marc Bolliger, Linard Filli, Adrian Cathomen, Romina Willi, Irina Lerch, Iris Krüsi, Melina Giagiozis, Christian Meyer, Martin Schubert, Michèle Hubli, Thomas M. Kessler, László Demkó, Christian R. Baumann, Lukas Imbach, Markus F. Oertel, Andrea Prusse, Alina Kiseleva, Luca Regli, Martin E. Schwab, Armin Curt   +21 more
wiley   +1 more source

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

Advanced NanoBiomed Research, EarlyView.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov, Murugan Ramalingam, Hongkai Wu, Toshinori Fujie, Yukinari Nakamura, Takeshi Hori, Yuji Nashimoto, Xuetao Shi, Hirokazu Kaji   +8 more
wiley   +1 more source

The Efficacy of Botulinum Toxin A Intramuscular Injections in After-Stroke Spasticity

Türk Nöroloji Dergisi, 2010
OBJECTIVE: Spasticity is a common dysfunction in stroke patients. It hinders the performance of everyday living activities and lowers the quality of life.
Melek Karaçam, Deniz Selçuki
doaj   +2 more sources

Effects of gabapentin on muscle spasticity and both induced as well as spontaneous autonomic dysreflexia after complete spinal cord injury

Front. Physio., 2012
We recently reported that the neuropathic pain medication, gabapentin (GBP; Neurontin), significantly attenuated both noxious colorectal distension (CRD)-induced autonomic dysreflexia (AD) and tail pinch-induced spasticity compared to saline-treated ...
Alexander Sasha Rabchevsky, Samir P. Patel, T. S. Lyttle, Khalid C. Eldahan, C. R. O’Dell, Yi Zhang, P. Popovich, P. Kitzman, K. D. Donohue   +8 more
semanticscholar   +1 more source

Population pharmacokinetic modelling revealed large variability in oromucosal absorption of Δ9‐tetrahydrocannabinol in older patients with poor appetite

British Journal of Clinical Pharmacology, EarlyView.
Aim Cannabis‐based medicines are gaining interest and being explored for new therapeutic indications, many of which commonly affect older medical patients. As most previous studies of the population pharmacokinetics of cannabinoids have been performed in healthy adults, this study aimed to investigate the population pharmacokinetics of Δ9 ...
Ida Klitzing Storgaard, Rikke Lundsgaard Nielsen, Morten Baltzer Houlind, Olivia Bornæs, Louise Westberg Strejby Christensen, Aino Leegaard Andersen, Helle Gybel Juul‐Larsen, Lillian Mørch Jørgensen, Torben Breindahl, Baker Nawfal Jawad, Izzet Altintas, Ove Andersen, Trine Meldgaard Lund   +12 more
wiley   +1 more source

Abnormal muscle tension as one of the main problems after a stroke

Journal of Education, Health and Sport, 2019
Background: Stroke is a growing problem in an aging society. According to WHO data, it is the second most common cause of death. An increase in the number of strokes causes an increase in the number of patients struggling with its consequences.
Daria Zaborna, Maciej Lazarek, Jakub Husejko, Magdalena Lamch, Magdalena Belczyńska, Marlena Kontowicz, Karolina Cięszka, Karolina Kubiak, Natalia Krakowska, Adrian Zwolinski, Martyna Lamtych, Aleksandra Modlińska, Beniamin Szmelcer, Kornelia Kędziora-Kornatowska   +13 more
doaj   +3 more sources

Spasticity or reversible muscle hypertonia?

Journal of Rehabilitation Medicine, 2011
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, Klemens, Fheodoroff, Franco, Molteni   +2 more
openaire   +3 more sources