Search results for "POA"

C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) as inflammation markers in elderly patients with stable chronic obstructive pulmona…

2010

Erythrocyte sedimentation rate (ESR) might represent a less expensive alternative to C-reactive protein (CRP) as a marker of systemic inflammation in stable chronic obstructive pulmonary disease (COPD). We tried to verify this hypothesis in 223 consecutive outpatients aged 65 years or more with stable COPD enrolled in a multicenter observational study. Patients were grouped according to normal/increased ESR/CRP values and groups were compared with regard to clinical and laboratory characteristics. Correlations between CRP, ESR and selected variables of interest were assessed by Spearman's ζ-test and multivariate linear regression analysis. CRP was weakly and inversely correlated with the fo…

Nest Site Selection by Kentish Plover Suggests a Trade-Off between Nest-Crypsis and Predator Detection Strategies

2014

Predation is one of the main causes of adult mortality and breeding failure for ground-nesting birds. Micro-habitat structure around nests plays a critical role in minimizing predation risk. Plovers nest in sites with little vegetation cover to maximize the incubating adult visibility, but many studies suggest a trade-off between nest-crypsis and predator detection strategies. However, this trade-off has not been explored in detail because methods used so far do not allow estimating the visibility with regards to critical factors such as slope or plant permeability to vision. Here, we tested the hypothesis that Kentish plovers select exposed sites according to a predator detection strategy,…

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

2012

Familial hyperkalemic hypertension (FHHt) is a Mendelian form of arterial hypertension that is partially explained by mutations in WNK1 and WNK4 that lead to increased activity of the Na(+)-Cl(-) cotransporter (NCC) in the distal nephron. Using combined linkage analysis and whole-exome sequencing in two families, we identified KLHL3 as a third gene responsible for FHHt. Direct sequencing of 43 other affected individuals revealed 11 additional missense mutations that were associated with heterogeneous phenotypes and diverse modes of inheritance. Polymorphisms at KLHL3 were not associated with blood pressure. The KLHL3 protein belongs to the BTB-BACK-kelch family of actin-binding proteins tha…

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2013

Benefit of hearing aid use in the elderly: the impact of age, cognition and hearing impairment

2018

Il beneficio protesico e il ruolo delle abilità cognitive, dell’età e del deficit uditivo nel paziente anziano.Questo studio analizza il beneficio protesico in un campione di soggetti anziani (n = 102, età media 81,1 anni), indagando il ruolo svolto dall’età, dal deficit uditivo e dalle abilità cognitive. Il beneficio protesico è stato valutato sia come miglioramento delle caratteristiche audiometriche con protesi (in termini di soglie tonali e soglie di percezione del parlato in quiete e nel rumore) sia come diminuzione della percezione della disabilità e dell’handicap dovuti alla ipoacusia. Sono state valutate diverse abilità cognitive, tra cui la memoria a breve termine, le funzioni esec…

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

2003

Item does not contain fulltext A boy with recurrent episodes of hypoglycaemia and ataxia, microcephaly, mental retardation, permanent lactic acidaemia, intermittent 2-oxoglutaric aciduria as well as elevation of serum branched chain amino acids was diagnosed with dihydrolipoamide dehydrogenase (E3) deficiency. Analysis of genomic DNA revealed compound heterozygosity for two novel mutations: I393T in exon 11, located at the interface domain of the protein and possibly interfering with its dimerisation, and IVS9+1G>A located at a consensus splice site. A heterozygous polymorphism was also detected. In the patient's cDNA the I393T mutation and the polymorphism appeared to be homozygous, indica…

Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the s…

2021

Abstract Introduction Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disease due to the peripheral resistance to aldosterone. Its clinical spectrum includes neonatal salt loss syndrome with hyponatremia and hypochloraemia, hyperkalemia, metabolic acidosis and increased plasmatic levels of aldosterone. Two genetically distinct forms of disease, renal and systemic, have been described, showing a wide clinical expressivity. Mutations in the genes encoding for the subunits of the epithelial sodium channels (ENaC) are responsible for generalized PHA1. Patients’ presentation We hereby report on two Italian patients with generalized PHA1, coming from the same small town in the center of S…

Quality and potency profile of eight recombinant isoallergens, largely mimicking total Bet v 1-specific IgE binding of birch pollen.

2019

Background To date, only limited information on structure, expression levels and IgE binding of Bet v 1 variants, which are simultaneously expressed in birch pollen, is available. Objective To analyse and compare structure and serum IgE/IgG binding of rBet v 1 variants to Bet v 1.0101. Methods Recombinant Bet v 1 variants were studied with sera of 20 subjects allergic to birch pollen. Folding, aggregation and solubility of the rBet v 1 variants were analysed to attribute diverging IgE binding to either allergen structure or methodological features. IgE/IgG binding was studied with rBet v 1 in solution or adsorbed to solid phases. Allergen-mediated cross-linking of FceRI receptors was determ…

Transient Receptor Potential Channel Polymorphisms Are Associated with the Somatosensory Function in Neuropathic Pain Patients

2011

Transient receptor potential channels are important mediators of thermal and mechanical stimuli and play an important role in neuropathic pain. The contribution of hereditary variants in the genes of transient receptor potential channels to neuropathic pain is unknown. We investigated the frequency of transient receptor potential ankyrin 1, transient receptor potential melastin 8 and transient receptor potential vanilloid 1 single nucleotide polymorphisms and their impact on somatosensory abnormalities in neuropathic pain patients. Within the German Research Network on Neuropathic Pain (Deutscher Forscbungsverbund Neuropathischer Schmerz) 371 neuropathic pain patients were phenotypically ch…

Hypoxemia Adds to the CURB-65 Pneumonia Severity Score in Hospitalized Patients With Mild Pneumonia

2011

BACKGROUND: Hypoxemia may influence the prognosis of patients with mild pneumonia, regardless of the initial CURB-65 score (confusion, blood urea nitrogen > 20 mg/dL, respiratory rate > 30 breaths/min, blood pressure < 90/60 mm Hg, and age ≥ 65 y). OBJECTIVE: To determine the risk factors associated with hypoxemia and the influence of hypoxemia on clinical outcomes in hospitalized patients with mild pneumonia. METHODS: We performed a multicenter prospective cohort study of 585 consecutive hospitalized patients with mild pneumonia (CURB-65 groups 0 and 1). We stratified the patients according to the presence of hypoxemia, defined as a PaO2/FIO2 < 300 mm Hg on admission. We assessed the risk …