Search results for "Spastic"

Blindness, tetraspasticity, and other signs of irreversible brain damage in hereditary angioedema

2017

AP5Z1/SPG4 8 frequency in autosomal recessive and sporadic spastic paraplegia

2014

Hereditary spastic paraplegias (HSP) constitute a rare and highly heterogeneous group of neurodegenerative disorders, defined clinically by progressive lower limb spasticity and pyramidal weakness. Autosomal recessive HSP as well as sporadic cases present a significant diagnostic challenge. Mutations in AP5Z1, a gene playing a role in intracellular membrane trafficking, have been recently reported to be associated with spastic paraplegia type 48 (SPG48). Our objective was to determine the relative frequency and clinical relevance of AP5Z1 mutations in a large cohort of 127 HSP patients. We applied a targeted next-generation sequencing approach to analyze all coding exons of the AP5Z1 gene. …

4D paleoenvironmental evolution of the Early Triassic Sonoma Foreland Basin (western USA)

2017

In the wake of the Mesozoic, the Early Triassic (~251.95 Ma) corresponds to the aftermath of the most severe mass extinction of the Phanerozoic: the end-Permian crisis, when life was nearly obliterated (e.g., 90% of marine species disappeared). Consequences of this mass extinction are thought to have prevailed for several millions of years, implying a delayed recovery lasting the whole Early Triassic, if not more. Several paradigms have been established and associated to a delayed biotic recovery scenario expected to have resulted from harsh and deleterious paleoenvironments. These paradigms include a global anoxia in the marine realm, a “Lilliput” effect, and the presence of “disaster” tax…

Update on mechanism and therapeutic implications of spinal cord stimulation and cerebral hemodynamics: A narrative review

2017

Spinal cord stimulation (SCS) is well known for its early role in the management of chronic pain, mainly failed back surgery syndrome (FBSS), spasticity, and bowel and bladder dysfunction. In more recent years, SCS has been proposed for patients suffering from refractory angina or peripheral vasculopathies in order to gain symptom relief, thus indicating some hemodynamic effect on the peripheral circulation. Taking into account this scientific observation, since the late1980s, researchers have started to investigate the potential effect of SCS on cerebral blood flow (CBF) regulation and its possible application in certain pathological settings dealing with vascular pattern dysfunction, such…

Leczenie poudarowej spastyczności z uwzględnieniem wybranych metod fizjoterapeutycznych i usprawniania kontroli motorycznej - przegląd aktualnych dow…

2017

Choroby naczyniowe mózgu o podłożu udarowym dotyczą milionów osób na całym świecie, a roczny odsetek zachorowalności stale rośnie. W dobie społeczeństwa starzejącego się i cierpiącego na liczne czynniki ryzyka, w szczególności te modyfikowalne, udary mózgu oraz następowe porażenie mięśni w wyniku uszkodzenia struktur składowych górnego neuronu ruchowego będzie coraz to poważniejszym problem dla całego systemu opieki zdrowotnej. Skuteczne postępowanie lecznicze i fizjoterapeutyczne w przypadku utrwalonej spastyczności poudarowej, zarówno w okresie ostrym, jak i przewlekłym, stanowi nadal istotny problem medyczny o charakterze interdyscyplinarnym. Opieka nad tego typu pacjentem staje się swoi…

Disease severity affects quality of life of hereditary spastic paraplegia patients

2011

Background and purpose: Hereditary spastic paraplegia (HSP) causes progressive gait disturbance because of degeneration of the corticospinal tract. To assess its impact on Health-Related Quality of Life (HRQoL), we analyzed the correlation of HRQoL with disease severity and clinical symptoms in HSP. Methods: HRQoL was assessed by the Short-Form 36 (SF-36) Mental and Physical Component summary scores (MCS and PCS) in 143 German patients with HSP. Disease severity was assessed by the Spastic Paraplegia Rating Scale (SPRS) and landmarks of walking ability. Patients with ! pure" or ! complicated" HSP were compared. Results: Higher SPRS scores indicating higher disease severity correlated signif…

Interests of medical hypnosis during toxin botulinic injections: Preliminary study

2014

Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.

2021

Spastic paraplegia type 7 (SPG7) is one of the most common hereditary spastic paraplegias. SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. We sought to clinically and genetically characterize a Spanish cohort of SPG7 patients. Patients were recruited from our HCA and HSP cohorts. We identified twenty-one patients with biallelic pathogenic SPG7 mutations. Mean age at onset was 37.4 years (SD ± 14.3). The most frequent phenotype was spastic ataxia (57%), followed by pure spastic paraplegia (19%) and complex phenotypes (19%). Isolated patients presented with focal or multifocal dystonia, subclinical myopat…

Ischemia in patients with no obstructive coronary artery disease: classification, diagnosis and treatment of coronary microvascular dysfunction

2020

Patients with coronary microvascular dysfunction represent a widespread population, and despite the good prognosis, many of them, because of the angina symptoms, have a poor quality of life with strong limitations in their daily activities. In 2017, a new classification of microvascular dysfunction as well as a new definition of ischemia in patients with no obstructive coronary artery disease became available. This new definition improves Kemp's initial work, where cardiac X syndrome was initially described. This work summarizes the last updates on the subject with particular attention to the new classification of microvascular dysfunction, with particular attention to microvascular and vas…

2021

Abstract Background Individuals with cerebral palsy (CP) have problems in everyday tasks such as walking and climbing stairs due to a combination of neuromuscular impairments such as spasticity, muscle weakness, reduced joint flexibility and poor coordination. Development of evidence-based interventions are in pivotal role in the development of better targeted rehabilitation of CP, and thus in maintaining their motor function and wellbeing. Our aim is to investigate the efficacy of an individually tailored, multifaceted exercise intervention (EXECP) in children and young adults with CP. EXECP is composed of strength, flexibility and gait training. Furthermore, this study aims to verify the …