Search results for "Symptomatic"
showing 10 items of 479 documents
High Variability of Fabry Disease Manifestations in an Extended Italian Family
2015
Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolaseα-galactosidase A (α-GAL). The impairment ofα-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight members showed the exonic mutation M51I in the GLA gene, a disease-causing mutation associated with the atypical phenotype. The clinical history of this family highlights a wide phenotypic variability, in terms of involved organs and severity. The phenotypic variability of two male pati…
Echo-Doppler left ventricular filling abnormalities in patients with rheumatoid arthritis without clinically evident cardiovascular disease
1996
Our investigation aimed at verifying diastolic abnormalities in rheumatoid patients, without clinically evident cardiovascular disease and other confounding complaints, by using pulsed Doppler examination of transmitral blood flow. We selected 40 patients fulfilling revised American Rheumatism Association (ARA) criteria for the diagnosis of rheumatoid arthritis having no symptoms of cardiac disease or clinical findings of other extracardiac diseases. We also studied 40 rheumatoid-matched healthy volunteers as a control group. An echocardiographic examination was carried out on each subject. Left ventricular structural and functional measurements were obtained. Interventricular, septal thick…
Detection of hepatitis B virus markers in sera of asymptomatic hepatitis B surface antigen carriers with special emphasis to pre-S-encoded proteins.
1987
Sera of asymptomatic hepatitis B surface antigen (HBsAg) carriers were analyzed for the presence of pre-S-encoded proteins. Four individuals with biopsy-proven chronic hepatitis uniformly expressed pre-S1- and pre-S2-encoded proteins. Individuals who had histologically normal or largely normal livers were heterogeneous with respect to expression of pre-S-encoded proteins. This heterogeneous expression of pre-S-encoded proteins occurred most likely due to difference in serum HBsAg concentration. Alternatively differences in pre-S gene expression need to be considered. Clinically the study indicates that expression of pre-S domains in serum is unrelated to viremia or chronic liver disease.
Low-fat dairy products and blood pressure: follow-up of 2290 older persons at high cardiovascular risk participating in the PREDIMED study
2014
High blood pressure (BP) has been ranked as the most important risk factor worldwide regarding attributable deaths. Dietary habits are major determinants of BP. Among them, frequent intake of low-fat dairy products may protect against hypertension. Our aim was to assess the relationship between low-fat dairy product intake and BP levels and their changes after 12-month follow-up in a cohort of asymptomatic older persons at high cardiovascular risk recruited into a large-scale trial assessing the effects of Mediterranean diets on cardiovascular outcomes. Data from 2290 participants, including 1845 with hypertension, were available for analyses. Dairy products were not a specific part of the …
Previous antibacterial treatment due to concomitant infections in preschool children is associated with a lower Helicobacter pylori positivity
2005
Use of antimicrobial agents has been proposed as 1 of the factors that contribute to the loss of Helicobacter pylori (H. pylori) infection. The aim of the study was to investigate the influence of a previous treatment with antibiotics on the prevalence of H. pylori infection in preschool children. Parents of 146 asymptomatic children (aged 0.5-5 y; no antibiotic treatment during the previous 4 weeks) completed a questionnaire about previous treatment with antibiotics and socioeconomic status. Infection with H. pylori was assessed by the monoclonal stool antigen test. H. pylori positivity was 18% (27/146). It was significantly lower in children who had been treated with antibiotics previousl…
The impact of home palliative care on symptoms in advanced cancer patients
2000
Physical symptoms, which are highly prevalent in patients with cancer, have a major impact on many aspects of quality of life, and the best possible quality of life is the principal aim of palliative care. Few studies have reported the impact of home care on pain and symptoms among cancer patients living at home. The aim of this study was to evaluate the impact of home palliative care given by an experienced team on symptoms in advanced cancer patients. A consecutive series of 373 patients who were referred to a home palliative care program in the period 1993-1995 were prospectively evaluated. Patients were enrolled for the presence of different symptoms (pain, nausea and vomiting, dry mout…
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…
Urachal remnants in asymptomatic children: sonographic morphology.
1991
The sonographic morphology of urachal remnants is not well known and findings tend to be misinterpreted. We present urachal remnants in 16 asymptomatic children (1 week-16 years). In the prevesical part two different types of urachal remnants were found: the tubular type with a small outer muscle wall and the fusiform type with a muscle wall thickness up to 12 mm. Further subvariants are presented. Differential diagnosis of the fusiform type includes urachal cyst and tumorous muscle thickening.
Angioleiomyoma affecting the lips : report of 3 cases and review of the literature
2010
Angioleiomyoma is an uncommon benign soft tissue tumor usually found in the lower extremities and rarely observed in oral tissues. It is microscopically characterized as a proliferation of smooth muscle cells intermingled with abundant vascular channels. Oral angioleiomyomas affect mostly the lips, palate, buccal mucosa and tongue, and appears as a submucosal painless nodule. Upper lip is seldom affected and only few cases have been reported. We report three additional cases of angioleiomyoma affecting the lips of elderly patients. All lesions were asymptomatic and presented as submucosal nodules of approximately 1cm. Microscopic analysis on H and E sections revealed similar pattern in all …
Perfusion Index and Pulse Oximetry Screening for Congenital Heart Defects
2017
Objective To evaluate the efficacy of combined pulse oximetry (POX) and perfusion index (PI) neonatal screening for severe congenital heart defects (sCHD) and assess different impacts of screening in tertiary and nontertiary hospitals. Study design A multicenter, prospective study in 10 tertiary and 6 nontertiary maternity hospitals. A total of 42 169 asymptomatic newborns from among 50 244 neonates were screened; exclusion criteria were antenatal sCHD diagnosis, postnatal clinically suspected sCHD, and neonatal intensive care unit admission. Eligible infants underwent pre- and postductal POX and PI screening after routine discharge examination. Targeted sCHD were anatomically defined. Posi…