Search results for " Dysplasia"
showing 10 items of 206 documents
Granulozytenfunktion bei Frühgeborenen ab der 34. Schwangerschaftswoche und bei reifen Neugeborenen
1999
BACKGROUND Preterm and term neonates have an increased risk to develop severe bacterial infections. Impairment of neutrophil function may be responsible for this increased risk. Other diseases related to prematurity like retinopathia of prematurity (ROP) or broncho-pulmonary dysplasia (BPD) on the other hand may be due to poorly controlled O2-radical production. PATIENTS AND METHODS Blood samples of 112 premature (34 weeks of gestation and older) and term neonates were analysed. Blood samples of 23 healthy adults (18 to 50 years old) served as controls. O2-radical production and phagocytosis of neutrophils were determined by flow cytometry, using a commercial test system. RESULTS Under the …
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
2014
Background LMNA/C mutations have been linked to the premature aging syndrome Hutchinson’s progeria, dilated cardiomyopathy 1A, skeletal myopathies (such as the autosomal dominant variant of Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy), Charcot-Marie-Tooth disorder type 2B1, mandibuloacral dysplasia, autosomal dominant partial lipodystrophy, and axonal neuropathy. Atrioventricular block (AVB) can be associated with several cardiac disorders and it can also be a highly heritable, primitive disease. One of the most common pathologies associated with AVB is dilated cardiomyopathy (DCM), which is characterized by cardiac dilatation and reduced systolic function. In this …
Critical Structural Defects Explain Filamin A Mutations Causing Mitral Valve Dysplasia
2019
Mitral valve diseases affect approximately 3% of the population and are the most common reasons for valvular surgery because no drug-based treatments exist. Inheritable genetic mutations have now been established as the cause of mitral valve insufficiency, and four different missense mutations in the filamin A gene (FLNA) have been found in patients suffering from non-syndromic mitral valve dysplasia (MVD). The FLNA protein is expressed, in particular, in endocardial endothelia during fetal valve morphogenesis and is key in cardiac development. The FLNA-MVD causing mutations are clustered in the N-terminal region of FLNA. How the mutations in FLNA modify its structure and function, have mos…
Antioxidants: Role in the prevention and treatment of bronchopulmonary dysplasia
2022
Bronchopulmonary dysplasia (BPD) is one of the major causes of chronic respiratory diseases among infants. Both pharmacological and nonpharmacological approaches have been proposed for its management. Since oxidative stress is known to play a pivotal role in the pathogenesis of BPD, it is reasonable to consider the potential of antioxidant strategies in the prevention and treatment of this condition. Indeed, antioxidants can prevent or inhibit substrate oxidation. Some studies have evaluated the efficacy of the exogenous administration of vitamins and micronutrients in reducing the propagation of free radicals through their scavenging capacity. Nonetheless, encouraging preclinical results d…
Target oxygen levels in preterm neonates
2013
To achieve postnatal adaptation newly born infant need to aerate the lungs, reduce pulmonary vascular resistance, and initiate oxygen and carbon dioxide exchange. The cornerstone of newborn resuscitation resides therefore in the establishment of a functional residual capacity and an adequate oxygenation. Recent guidelines have established guidelines concerning oxygen supplementation in preterm infants in the delivery room (DR); however, they are vague and unspecific. Herewith, we will address available information regarding the use of oxygen supplementation in the DR in preterm infants to satisfactorily overcome postnatal adaptation. Introduction: Resuscitation of the newborn is considered …
CT and MR Imaging of Lesions of Skull Base and Cranial Vault
1989
The importance of CT in examinations of the skull base, including its role in the planning of operative or radiation therapy, has long been recognized (Liliequist and Forsell 1976; Bradac et al. 1977 a, b; 1978 a, b; Hammerschlag et al. 1977; Caille et al. 1977; Lohkamp et al. 1977; Huk and Schiefer 1978; Becker et al. 1978; Weinstein et al. 1978). In the present chapter we shall review the capabilities and limitations of this modality in the diagnosis of diseases involving the bony skull base and cranial vault. A more detailed discussion of specific tumor types may be found under the appropriate headings elsewhere in the book.
Pulmonary hypertension in pediatrics. a feasible approach to bridge the gap between real world and guidelines
2019
Pulmonary hypertension (PH) is quite infrequent in pediatric age and its most common etiologies include idiopathic pulmonary arterial hypertension, PH related to congenital heart diseases, bronchopulmonary dysplasia (chronic lung disease), persistence of pulmonary hypertension of the newborn, and congenital diaphragmatic hernia. The developed for adult patients PH classification shows limitations when applied to pediatric subjects since the underlying causes are markedly different between the two ages. In 2011, the Pulmonary Vascular Research Institute Panama Task Force outlined the first specific pediatric pulmonary hypertensive vascular disease diagnostic classification, including 10 main…
Epiphysäre Dysplasie des Hüftgelenks, Diagnostik und Differentialdiagnostik mit der MRT
1992
Sixteen hip joints of eight patients with multiple epiphyseal dysplasia were examined by clinical investigation, plain films and by magnetic resonance imaging (MRI), using T1- and T2-weighted images and gradient echoes. MRI is useful in demonstrating the congruity of the joint, in the changes of the epiphyseal signal intensities and the epiphyseal line. Individual changes of the signal intensity patterns on T1- and T2-weighted scans are described. Although MRI exhibits a variety of patterns in different patients, a clearcut differentiation from Legg-Calve-Perthes' disease is possible.
Expression of Remodelling Enzymes (MMP-2, MMP-9) in Normal and Pathological Oral Mucosa Samples
2008
Introduction. The oral cavity contains many structures compressed in a small area. It is exposed to chronic or recurrent, physical and chemical trauma leading to mucosal reactions (e.g. hyperplasia, dysplasia and tumors). For a long time, our group has been studying the expression of some metalloproteinases (MMP-2, MMP-9) in healthy and pathological human oral mucosa through immunohistochemistry and RT-PCR to investigate the entity of the remodelling process in the different cases. Matherials and Methods. In this paper we investigate a sample of normal oral mucosa and four pathological samples (mucocele, fibroma, dysplasia and carcinoma). We identified the localization of MMP-2 and MMP-9 th…
Expression of Cyclooxygenase-1 and Cyclooxygenase-2 in normal and pathological human oral mucosa
2011
Abstract: Cyclooxigenase (COX) is the rate-limiting enzyme for the conversion of arachidonic acid (AA) to prostaglandins (PGs). Two isoforms of COX have been identified: COX-1 is constitutively expressed in many cells and is involved in cell homeostasis, angiogenesis and cell-cell signalling; COX-2 is not expressed in normal condition however it is strongly expressed in inflammation. The oral cavity is costantly exposed to physical and chemical trauma that could lead to mucosal reactions such as hyperplasia, dysplasia and cancer. Early diagnosis is the most important issue to address for a positive outcome of oral cancer; therefore it would be useful to identify molecular markers whose expr…