Search results for "DIAGNOSI"
showing 10 items of 2319 documents
Psychiatrische und neuropsychologische Auffälligkeiten bei Patienten mit Morbus Fabry: Literaturübersicht
2005
Fabry Disease (FD) is an X-linked lysosomal storage disorder (prevalence about 1 : 100 000) caused by a genetic defect associated with a lack of alpha-galactosidase A (alpha-GAL) enzyme activity. As a consequence, neutral glycosphingolipides can not be cleaved and metabolized, and accumulate in lysosomes of several tissues, particularly in vascular endothelium and smooth muscle cells. The most prominent symptoms comprise pain attacks and acroparesthesia, angiokeratoma, corneal opacity, renal and cardiac dysfunction, hypo- and anhidrosis, gastrointestinal symptoms, and cerebrovascular dysfunction with vertigo, headache, and cerebral ischemia. Characteristic symptoms of FD can occur in male a…
US7 Oral mucosal ulcerations
2006
Oral mucosal ulcer represents a localized loss of the lining epithelium and sometimes also of the subjacent connective tissue. It could be persistent or recurrent and also single or multiple. As regards those persistent a large variety of etiologic factors have been suggested: this kind of ulcers could be a sign of a localised direct reaction to any physical/chemical injury or due to a drug-related reaction (e.g. by chemotherapy). Mucosal ulceration could also occur in a multiplicity of diseases such as neoplasia, infection, immune-mediated disease or as sign of systemic diseases (e.g. of blood, skin or gastrointestinal tract). A correct diagnosis needs to collect as carefully as possible s…
Diagnostic Value of Prenatal MR Imaging in the Detection of Brain Malformations in Fetuses before the 26th Week of Gestational Age.
2016
BACKGROUND AND PURPOSE: In several countries, laws and regulations allow abortion for medical reasons within 24–25 weeks of gestational age. We investigated the diagnostic value of prenatal MR imaging for brain malformations within 25 weeks of gestational age. MATERIALS AND METHODS: We retrospectively included fetuses within 25 weeks of gestational age who had undergone both prenatal and postnatal MR imaging of the brain between 2002 and 2014. Two senior pediatric neuroradiologists evaluated prenatal MR imaging examinations blinded to postnatal MR imaging findings. With postnatal MR imaging used as the reference standard, we calculated the sensitivity, specificity, positive predictive value…
Goitrous congenital hypothyroidism in a twin pregnancy causing respiratory obstruction at birth: Implications for management
2006
We report a twin pregnancy complicated by fetal goitrous hypothyroidism secondary to dyshormonogenesis caused by thyroglobulin deficiency. Antenatal treatment with intra-amniotic thyroxine was considered but not performed, given the late gestational age at diagnosis and the multiple nature of the pregnancy. Both twins developed airway obstruction at delivery, requiring intubation and ventilation. We review the literature and describe the practical issues relating to the antenatal assessment and perinatal management of fetal goitre.
Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe
2014
ObjectivesThe aim of this study is to describe the prenatal diagnosis and epidemiology of multicystic kidney dysplasia (MCKD). MethodsThe study is based on routinely collected data from a European database of major congenital anomalies including 13 registries with cases born in 1997-2006 and covering 1458552 births. ResultsThere were 601 MCKD cases giving an overall prevalence of 4.12 per 10000 births with regional variation. In live births, 87% of cases had an isolated renal anomaly and 13% had associated major nonrenal anomalies (chromosomal, syndrome or other major anomalies). For the cases with isolated renal anomalies, 51/386 (11%) and 7/386 (2%) choose to terminate the pregnancy or re…
Determinants of patient and health-care system delay in the diagnosis of tuberculosis in Sicily
2016
tuberculosis, health-care system, diagnosis
El conjunto mínimo básico de datos al alta hospitalaria como fuente de información para el estudio de las anomalías congénitas
1999
PURPOSE: The purpose of this study is that of assessing the validity of the computerized diagnoses of hospital discharges of congenital defects by comparing them with the information included in the medical history. MEANS AND METHODS: Based on the discharge records generated over a one-year period at 7 hospitals in the Autonomous Region of Valencia, 100 children were selected at random from each hospital. As a standard, the diagnoses stated in the medical histories were indexed and coded. Solely those discharges having taken place during the first year of life were considered. A study was also made of the type, seriousness and individual or combinations of congenital defects. A calculation …
Palatal perforations secondary to inhaled cocaine abuse: presentation of five cases
2010
The estimated incidence of complications associated with cocaine abuse is 4.8%. Palatal perforation is a very infrequent condition within the range of complications associated with cocaine abuse. No epidemiological cha- racteristics relating to patient age or gender have been established, and the diagnosis of the disorder requires a detailed clinical history, including antecedents of cocaine abuse. The clinical and radiological studies show palatal bone erosion and perforation of the soft or hard palate. The present study describes five cases of palatal perforation secondary to inhaled cocaine abuse. As a result of the increase in cocaine use in recent years, particularly among young adults…
Neuroblastoma in Europe: differences in the pattern of disease in the UK
1998
Summary Background Neuroblastoma is a major contributor to childhood cancer mortality, but its prognosis varies with age and stage of disease, and some tumours regress spontaneously. Urinary screening programmes or clinical examination may detect the disease before symptoms appear, but the benefit of early diagnosis is uncertain. We examined the incidence, pattern, and presentation of neuroblastoma in four European countries. Methods Population-based incidence rates were derived for France, Austria, Germany, and the UK. Age, sex, and stage distribution were analysed by Mantel-Haenszel techniques and Poisson regression. The proportion of incidental diagnoses (cases without symptoms found at …
Transitional cell carcinoma of the renal pelvis presenting as a renal abscess.
2002
We report on a 76-year-old woman who was diagnosed with a primary renal abscess of the left kidney. After percutaneous drainage, no clinical improvement was observed. Surgical exploration and nephrectomy were performed. The histologic evaluation revealed an unsuspected transitional cell carcinoma of the renal pelvis, which had been misinterpreted as a primary renal abscess. Malignancy must be considered as an underlying cause for the formation of a renal abscess, especially if no other predisposing factors such as diabetes mellitus or urinary stones are present.