Search results for "hypertrophic"
showing 10 items of 42 documents
Hypertrophic Lichen Planus: Importance of Follow-Up and Clinicopathologic Correlation
2021
Cardiomyopathic lentiginosis: an echo-Doppler report
1995
We report a case of a 64-year-old woman with cardiomyopathic lentiginosis. All the echocardiographic features of a hypertrophic obstructive cardiomyopathy were detected, with an accurate noninvasive measure of the left ventricle outflow gradient.
Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sul…
2022
Abstract Background Contiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene (STS) and contiguously located other genes expanding the phenotype. In large deletions, that encompass also the Kallmann syndrome 1 gene (KAL1), occasionally infantile hypertrophic pyloric stenosis (IHPS) and congenital anomalies of the kidney and urinary tract (CAKUT) have been reported. Patient presentation We report on a male newborn with family history in maternal uncle of renal abnormalities and short stature still without ichthyosiform dermatosis. The baby presented CAKUT with kidney failure and progressive vomitin…
A rare case of hyperproliferative gastropathy.
2014
Gastroenterology and Endoscopy Unit, Fondazione Istituto S. Raffaele – G. Giglio, Cefalu, Italy PhD Course in Surgical Biotechnology and Regenerative Medicine, School of Medicine, University of Palermo, Italy Euro-Mediterranean Institute of Science and Technology (IEMEST), Palermo, Italy Pathology Unit, Fondazione Istituto S. Raffaele – G. Giglio, Cefalu, Italy Radiology Unit Fondazione Istituto S. Raffaele – G. Giglio, Cefalu, Italy
Prognostic Role of Late Gadolinium Enhancement in Patients With Hypertrophic Cardiomyopathy and Low-to-Intermediate Sudden Cardiac Death Risk Score
2019
Sudden cardiac death (SCD) is the most life-threating complication of hypertrophic cardiomyopathy. Guidelines of the European Society of Cardiology (ESC) suggest the implantation of an implantable cardioverter defibrillator in primary prevention according to a 5-year risk SCD score >= 6%. The aim of the study is to evaluate the prognostic role of late gadolinium enhancement (LGE) in patients with a 5-year risk SCD score <6%. In this multicenter study, we performed cardiac magnetic resonance in 354 consecutive hypertrophic cardiomy-opathy patients (257 males, range of age 54 +/- 17) with a risk SCD score <6% (302 with <4% and 52 with >= 4 and <6% risk). Hard cardiac events,…
Oxidative Stress Markers in Hypertrophic Cardiomyopathy
2021
Background and Objectives: Hypertrophic cardiomyopathy (HCM) depends on the primary impairment of sarcomeres, but it can also be associated with secondary alterations in the heart related to oxidative stress. The present study aimed to examine oxidative-antioxidant disturbances in patients with HCM compared with control individuals. Materials and Methods: We enrolled 52 consecutive HCM patients and 97 controls without HCM. The groups were matched for age, body mass index, and sex. Peripheral blood was collected from all patients to determine the total antioxidant capacity (TAC), total oxidant status (TOS), lipid hydroperoxide (LPH), and malondialdehyde (MDA). The oxidative stress index (OSI…
Usefulness of DNA quantification in diagnosis of hypertrophic cardiomyopathies
2006
Hypertrophic cardiomyopathies (HCM) are a frequent cause of sudden death in both young people and adults. Different cardiomyopathies can be distinguished according to the etiological agent and, although there are morphological differences too, alterations in the quantity of DNA in the cardiomyocytes may play an important role in their pathogenesis and evolution. To understand the characteristics and the behaviour of the DNA index in hypertrophic cardiomyopathies, we have studied thirty cases (10 primaries or essential, 10 hypertensives and 10 toxic) and compared the results with those obtained for 10 macroscopically normal hearts. The results showed that the different cardiomyopathies were …
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
2021
AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family histor…
Declining Incidence of Infantile Hypertrophic Stenosis (IHPS) in Germany 2000-2008
2011
Background: The incidencce of infantile hypertrophic pyloric stenosis (IHPS) is highly variable over time and regionally different. There have been reports of declining incidence in Sweden, the US, Denmark and Scotland. In Sweden, the decline observed was parallel to the declining incidence of Sudden Infant Death Syndrome (SIDS) and was attributed to campaigns against prone sleeping position.
982 Maternal Age, History of Migration and Incidence of Infantile Hypertrophic Pyloric Stenosis in Germany in 2000-2008
2012
Background The incidence of infantile hypertrophic pyloric stenosis (IHPS) is highly variable over time and geographic regions. A decline in IHPS incidence was recently reported in Sweden, the US, Denmark, and Scotland and in Germany. Aim In further evaluation of our previous epidemiological data, we collected data on maternal age and history of migration in mothers from the regional administrations. We examined correlations between these factors and IHPS incidence. Methods Data were extracted from the public report of Health (Gesundheitsberichterstattung des Bundes) and population data from federal state governments. We collected the numbers of IHPS (International Statistical Classificatio…