Results 31 to 40 of about 113,489 (310)

Necrotizing enterocolitis totalis complicates an infantile presentation of ARL6IP1-related spastic paraplegia 61

Journal of Pediatric Surgery Case Reports, 2021
Spastic paraplegia 61 is a rare, complicated form of hereditary spastic paraplegia characterized by diffuse sensory and motor polyneuropathy. Knowledge about the clinical manifestations of disease in patients with this genetic condition is limited.
E.K. Ninmer, M.C. Spaeder, C.M. Peroutka, D.E. Levin   +3 more
doaj   +1 more source

Primary Spinal Intradural Hydatid Cysts in a Child With Progressive Paraparesis: A Case Report and Literature Review. [PDF]

Clin Case Rep
ABSTRACT Primary spinal hydatid cyst is an uncommon form of echinococcosis, which may cause focal neurological deficits. We report an extremely rare case of spinal hydatic cyst with several diagnostic and therapeutic challenges. A 4‐year‐old boy was referred to our medical center suffering from progressive lower back pain, weakness and numbness in both
Abolhasani A, Farzan A, Keyvanfar A, Khodabandelu M.   +3 more
europepmc   +2 more sources

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity. [PDF]

, 2019
Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the ...
Behnam, M, Houlden, H, Kaiyrzhanov, R, Maroofian, R, Salehi, M, Salpietro, V   +5 more
core   +3 more sources

Effects of Resistance Circuit Training on Health-Related Physical Fitness in People With Paraplegia: A Pilot Randomized Controlled Trial [PDF]

Annals of Rehabilitation Medicine, 2022
Objective To evaluate the efficacy and safety of 8 weeks of resistance circuit training in people with paraplegia due to spinal cord injury. Methods Participants were randomized into experimental and control groups. Although the intensity and sequence of
Minkyoung Son, Hyejin Lee, Bum-Suk Lee, EunYoung Kim, Hyeyeong Yun, Seck Jin Kim, JaeHak Kim, Seung-Mo Jin, Seon-Deok Eun   +8 more
doaj   +1 more source

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Brain : a journal of neurology, 2019
Vaz, McDermott et al. identify variants in PCYT2, which encodes a key gene in phospholipid biosynthesis, in five individuals with a new complex hereditary spastic paraplegia.
F. Vaz, J. McDermott, M. Alders, S. Wortmann, S. Kölker, Mia L. Pras-Raves, M. Vervaart, H. van Lenthe, Angela C. M. Luyf, H. Elfrink, K. Metcalfe, S. Cuvertino, P. Clayton, Rebecca Yarwood, M. Lowe, S. Lovell, R. Rogers, A. V. van Kampen, J. Ruiter, R. Wanders, S. Ferdinandusse, M. van Weeghel, M. Engelen, S. Banka   +23 more
semanticscholar   +1 more source

Prevalence and Risk Factors for Presumptive Ascending/Descending Myelomalacia in Dogs after Thoracolumbar Intervertebral Disk Herniation [PDF]

, 2017
Background: Ascending/descending myelomalacia (ADMM) is a severe complication of thoracolumbar intervertebral disk herniation (TL-IVDH) in dogs. Hypothesis/Objectives: To investigate the prevalence and risk factors for ADMM in nonambulatory dogs with ...
Aikawa, Amsellem, Bergknut, Bezuidenhout, Boekhoff, Ferreira, Fingeroth, Griffiths, Henke, Henke, Ito, Jeffery, Jeffery, Kato, Kranenburg, Lahunta, Laitinen, Levine, Lu, Marquis, Mayer, Muguet-Chanoit, Okada, Okada, Olby, Olby, Pais, Penning, Platt, Priester, Sato, Scott, Shinzato, Smolders, Zachary   +34 more
core   +1 more source

Health-Related Quality of Life in Rare Forms of Childhood-Onset Hereditary Spastic Paraplegia. [PDF]

Ann Clin Transl Neurol
ABSTRACT We assessed health‐related quality of life (HRQoL) in 80 children with rare hereditary spastic paraplegias using the Caregiver Priorities and Child Health Index of Life with Disabilities and clinician‐reported outcomes. HRQoL was consistently reduced, particularly in relation to motor, autonomic, and bulbar symptoms.
Schmidt HJD, Battaglia N, Rong J, Tam A, Carty S, Quiroz V, Yang K, Zaman Z, Schierbaum L, Bernardi K, Alecu JE, Ebrahimi-Fakhari D.   +11 more
europepmc   +2 more sources

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

European Journal of Human Genetics, 2019
Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo) dominant mental retardation type 9.
M. Pennings, M. Schouten, J. van Gaalen, R. Meijer, S. D. de Bot, M. Kriek, C. Saris, L. H. van den Berg, M. V. van Es, D. M. H. Zuidgeest, M. Elting, J. M. van de Kamp, K. V. van Spaendonck-Zwarts, C. D. Die-Smulders, E. Brilstra, Corien Verschuuren, B. D. de Vries, J. Bruijn, K. Sofou, F. Duijkers, B. Jaeger, J. Schieving, B. P. van de Warrenburg, E. Kamsteeg   +23 more
semanticscholar   +1 more source

Biomechanics of Pediatric Manual Wheelchair Mobility [PDF]

, 2015
Currently, there is limited research of the biomechanics of pediatric manual wheelchair mobility. Specifically, the biomechanics of functional tasks and their relationship to joint pain and health is not well understood.
Aurit, Christine M., Harris, Gerald F., Schnorenberg, Alyssa J., Slavens, Brooke A., Tarima, Sergey, Vogel, Lawrence C.   +5 more
core   +3 more sources

Serendipitous Symptom Control: Allopurinol for Spasticity in a Case of SPG4-Linked Hereditary Spastic Paraplegia-A Case Report. [PDF]

Clin Case Rep
Graphical representation of spasticity and medication changes. (A) Temporal course of lower limb spasticity measured by MAS scores. Following initiation of allopurinol 300 mg daily at baseline (red dashed line), there was a rapid and sustained improvement in spasticity from severe (MAS = 4) to mild (MAS = 1.8) over 12 months of follow‐up, represented ...
Elmezayen ZW, Salameh H, Afana A, Zahran A.   +3 more
europepmc   +2 more sources