Search results for "insufficiency"
showing 10 items of 506 documents
Incidence of hepatitis C virus infection in patients with chronic kidney disease on conservative therapy
2011
SummaryHepatitis C virus (HCV) infection is a never-ending public health problem. Many studies have investigated the incidence of HCV infection among dialysis patients, but there have only been a few epidemiological studies in renal conservative therapy. We studied 320 subjects with pre-dialysis chronic kidney disease living in Sicily, Italy. The incidence of HCV infection was 6.25%. In Europe, incidence ranges from 0.2% to 3.5%. It appears that the incidence of HCV infection is higher in the studied patient population than in the population as a whole.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
2021
International audience; Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for members of the Eph/ephrin receptor family were reported in several neurodevelopmental disorders. The ephrin receptor A7 gene (EPHA7) encodes a member of ephrin receptor subfamily of the protein-tyrosine kinase family. EPHA7 plays a role in corticogenesis processes, determines brain size and shape, and is involved in development of the central nervous system. One patient only was reported so far with a de novo deletion encompassing EPHA7 in 6q16.1. We…
A Comparison of 2 Mitral Annuloplasty Rings for Severe Ischemic Mitral Regurgitation: Clinical and Echocardiographic Outcomes.
2016
Controversies regarding the choice of annuloplasty rings for treatment of ischemic mitral regurgitation still exist. Aim of the study is to compare early performance of 2 different rings in terms of rest and exercise echocardiographic parameters (transmitral gradient, systolic pulmonary artery pressure, and mitral valve area), clinical outcomes, and recurrence of mitral regurgitation. From January 2008 till December 2013, prospectively collected data of patients who underwent coronary artery bypass grafting and undersizing mitral valve annuloplasty for severe chronic ischemic mitral regurgitation at our Institution were reviewed. A total of 93 patients were identified; among them 44 had sem…
Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies
2015
Background— Adams–Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent. Despite recent advances in the understanding of the genetic basis of AOS, for the majority of affected subjects, the underlying molecular defect remains unresolved. This study aimed to identify novel genetic determinants of AOS. Methods and Results— Whole-exome sequencing was performed for 12 probands, each with a clinical diagnosis of AOS. Analyses led to the identification of novel heterozygous truncating NOTCH1 mutations (c.1649dupA and c.6049_6050delTC) in 2 kindreds in which AOS was segregat…
Cardiovascular risk factors and the impact on prognosis in patients with chronic kidney disease secondary to autosomal dominant polycystic kidney dis…
2021
Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease. There is an increased rate of cardiovascular disease (CVD) in ADPKD. In this study, we evaluate the prevalence of cardiovascular risk factors, the achievement rates for treatment goals and cardiovascular events (CVE) in ADPKD and their relations with asymptomatic CVD in CKD from other etiologies (CKDoe) and controls. Methods: We evaluated 2445 CKD patients (2010–2012). The information collected was: clinical, anthropometric and analytical parameters, treatments and CVD evaluation (intima-media thickness (IMT), atheromatous plaque presence and ankle-brachial index (ABI)). Laborator…
Risk factors for high fall risk in elderly patients with chronic kidney disease
2022
Purpose: Patients with chronic kidney disease (CKD) usually represent an aging population, and both older age and CKD are associated with a higher risk of falling. Studies on risk factors among subjects with CKD are lacking. Methods: Records of outpatients from one geriatric clinic in Turkey were retrospectively reviewed. A result of ≥ 13.5 s on the timed up and go (TUG) test was accepted as a high risk of falls. Independent predictors of an increased risk of falls among subjects with CKD (estimated glomerular filtration rate of < 60 mL/min/1.73 m2) were identified using logistic regression models. Results: Patients with CKD (n = 205), represented the 20.2% of the entire cohort and was i…
A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulat…
2011
Abstract We report a novel heteroplasmic point mutation G8299A in the gene for mitochondrial tRNA Lys in a patient with progressive external ophthalmoplegia complicated by recurrent respiratory insufficiency. Biochemical analysis of respiratory chain complexes in muscle homogenate showed a combined complex I and IV deficiency. The transition does not represent a known neutral polymorphism and affects a position in the tRNA acceptor stem which is conserved in primates, leading to a destabilization of this functionally important domain. In vitro analysis of an essential maturation step of the tRNA transcript indicates the probable pathogenicity of this mutation. We hypothesize that there is a…
Pulse wave velocity differs between ulcerative colitis and chronic kidney disease
2017
Background: We hypothesized that a reversal of the physiological stiffness gradient, previously reported in end-stage renal disease, begins in the early stages of chronic kidney disease (CKD) and that chronic inflammation produces a different arterial phenotype in patients with ulcerative colitis (UC). Objectives: To assess the extent of arterial stiffening in the central (carotid-femoral pulse wave velocity, cf.-PWV) and peripheral arteries (carotid-radial pulse wave velocity, cr-PWV) and to explore the determinants of the stiffness gradient in UC and in CKD. Methods: We enrolled 45 patients with UC, 45 patients with stage 3-4 CKD and 45 matched controls. Results: Despite the comparable cf…
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutatio…
2015
Background Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients. Methods Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected. Results Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypoh…
Pulmonary vascular endothelialitis, thrombosis, and angiogenesis in Covid-19
2020
Abstract: BackgroundProgressive respiratory failure is the primary cause of death in the coronavirus disease 2019 (Covid-19) pandemic. Despite widespread interest in the pathophysiology of the disease, relatively little is known about the associated morphologic and molecular changes in the peripheral lung of patients who die from Covid-19. MethodsWe examined 7 lungs obtained during autopsy from patients who died from Covid-19 and compared them with 7 lungs obtained during autopsy from patients who died from acute respiratory distress syndrome (ARDS) secondary to influenza A(H1N1) infection and 10 age-matched, uninfected control lungs. The lungs were studied with the use of seven-color immun…