Search results for "Past"

Human pasteurized C1-inhibitor concentrate for the treatment of hereditary angioedema due to C1-inhibitor deficiency.

2011

Hereditary angioedema is a relatively rare genetic disorder affecting between one in 10,000 and one in 50,000 individuals worldwide. The most common clinical symptoms observed are relapsing swelling of the skin and abdominal pain attacks. However, more serious and potentially fatal laryngeal attacks can also occur. Hereditary angioedema is most frequently caused by a deficiency of C1-inhibitor. Replacement therapy with Berinert, an intravenous pasteurized C1-inhibitor concentrate derived from human plasma, is a recommended treatment for rapid resolution of acute attacks of hereditary angioedema due to C1-inhibitor deficiency. Prophylactic therapy with C1-inhibitor is also available. Future …

Oestrogen receptor subtype-specific repression of calpain expression and calpain enzymatic activity in neuronal cells - implications for neuroprotect…

2006

Calpains represent a superfamily of Ca2+-activated cysteine-proteases, which are important mediators of apoptosis and necrosis. In the brain, m-calpain and micro-calpain, the two ubiquitous calpain-isoforms, are strongly activated in neurones after an excitotoxic Ca2+ influx occurring, for example, during cerebral ischemia. Because oestrogen and its receptors (ERalpha/ERbeta) can exert neuroprotective activity, we investigated their influence on expression of calpains and their endogenous inhibitor, calpastatin. We found that ectopic expression of ERalpha in human neuroblastoma SK-N-MC cells led to a ligand-independent constitutive down-regulation of m-calpain accompanied by an up-regulatio…

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…

Residents’corner August 2014. sQUIZ your knowledge!: Persistent papules on the lateral aspects of both palms

2014

A 52 year-old woman, with no relevant past medical history, presented with asymptomatic cutaneous lesions (that had first been noticed fifteen years before). On examination, several 2-3 mm reddish-yellow, well-defined and firm papules were noted on the lateral aspects of both hands (figure 1).What is your diagnosis (figure 1)? The answer is on the next page.The answer to sQuiz: AcrokeratoelastoidosisA biopsy of one of the lesions showed orthokeratotic hyperkeratosis with a central area bearing a [...]

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 …

<p>Shock Waves as a Treatment Modality for Spasticity Reduction and Recovery Improvement in Post-Stroke Adults – Current Evidence and Qualitati…

2020

Purpose: This systematic review examines intervention studies using extracorporeal shock wave therapy (ESWT) application in post-stroke muscle spasticity with particular emphasis on the comparison of two different types of radial (rESWT) and focused shock waves (fESWT). Methods: PubMed, PEDro, Scopus, and EBSCOhost databases were systematically searched. Studies published between the years 2000 and 2019 in the impact factor journals and available in the English full-text version were eligible for inclusion. All qualified articles were classified in terms of their scientific reliability and methodological quality using the PEDro criteria. The PRISMA guidelines were followed and the registrat…

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.

2001

Basement membrane (BM) morphogenesis is critical for normal kidney function. Heterotrimeric type IV collagen, composed of different combinations of six alpha-chains (1-6), is a major matrix component of all BMs (ref. 2). Unlike in other BMs, glomerular BM (GBM) contains primarily the alpha 3(IV) and alpha 4(IV) chains, together with the alpha 5(IV) chain. A poorly understood, coordinated temporal and spatial switch in gene expression from ubiquitously expressed alpha 1(IV) and alpha 2(IV) collagen to the alpha 3(IV), alpha 4(IV) and alpha 5(IV) chains occurs during normal embryogenesis of GBM (ref. 4). Structural abnormalities of type IV collagen have been associated with diverse biological…