Search results for "ETIOLOGY"
showing 10 items of 639 documents
Congenital hypothyroidism: A 2020-2021 consensus guidelines update-An ENDO-European Reference Network initiative endorsed by the European Society for…
2021
Background: An ENDO-European Reference Network (ERN) initiative was launched that was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis, and management of primary and central CH. The evidence-based guidelines were graded with the Grading of Recommendations, Assessment, Development and Evaluation system, describing both the strength of recommendations and the quali…
Epidemiological Study of Tricuspid Regurgitation After Cardiac Transplantation. Does it Influence Survival?
2022
Background: Tricuspid valve disease is the most frequent valvulopathy after heart transplantation (HTx). Evidence for the negative effect of post-transplant tricuspid regurgitation (TR) on survival is contradictory. The aim of this study was to analyze the causes of post-transplant TR and its effect on overall mortality.Methods: This is a retrospective observational study of all transplants performed in two Spanish centers (1009 patients) between 2000 and 2019. Of the total number of patients, 809 had no TR or mild TR and 200 had moderate or severe TR. The etiology of TR was analyzed in all cases.Results: The prevalence of moderate and severe TR was 19.8%. The risk of mortality was greater …
Alpha-1 antitrypsin deficiency: outstanding questions and future directions
2018
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. METHODS: In this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and discuss areas of controversy and formulate questions that need further research. RESULTS: 1) AATD is a highly underdiagnosed condition. Over 120,000 European individuals are estimated to have severe AATD and more than 90% of them are underdiagnosed. CONCLUSIONS: 2) Several clinical and…
Periodontal treatment on patients with cardiovascular disease : systematic review and meta-analysis
2018
Podeu consultar la versió en castellà del document a: http://hdl.handle.net/2445/153580
Burning mouth syndrome: a diagnostic and therapeutic dilemma
2012
Burning mouth syndrome (BMS) has been considered an enigmatic condition because the intensity of pain rarely corresponds to the clinical signs of the disease. Various local, systemic and psychological factors are associated with BMS, but its etiology is not fully understood. Also there is no consensus on the diagnosis and classification of BMS. A substantial volume of research has been focused on BMS during the last two decades. Progress has been made but the condition remains a fascinating, yet poorly understood area, in the field of oral medicine. Recently, there has been a resurgence of interest in this disorder with the discovery that the pain of BMS may be neuropathic in origin and ori…
Unusual Presentation of Bilateral Carotid Artery Dissection: The Importance of Reasoning Outside the Box
2021
A bilateral internal carotid artery dissection presenting with atypical symptoms of cerebral hypoperfusion has been rarely reported, especially in the absence of obvious precipitating factors. A middle-aged woman presented to the emergency department with a 2-day-history of progressive left arm numbness and weakness, confusion, disorientation and clumsiness worsened by upright position. A cerebral hypoperfusion condition was hypothesized and confirmed by a CT angiography, which showed bilateral internal carotid dissection with uncertain etiology. Screening for predisposing conditions to spontaneous carotid arteries dissection was basically negative. Regarding potential precipitating factors…
Cervico-Oculo-Acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?
1990
A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethali…
Distinct Clones of Yersinia pestis Caused the Black Death
2010
From AD 1347 to AD 1353, the Black Death killed tens of millions of people in Europe, leaving misery and devastation in its wake, with successive epidemics ravaging the continent until the 18th century. The etiology of this disease has remained highly controversial, ranging from claims based on genetics and the historical descriptions of symptoms that it was caused by Yersinia pestis to conclusions that it must have been caused by other pathogens. It has also been disputed whether plague had the same etiology in northern and southern Europe. Here we identified DNA and protein signatures specific for Y. pestis in human skeletons from mass graves in northern, central and southern Europe that …
Search for neutrino-induced cascades with five years of AMANDA data
2010
Contains fulltext : 97339.pdf (Publisher’s version ) (Closed access) We report on the search for electromagnetic and hadronic showers ("cascades") produced by a diffuse flux of extraterrestrial neutrinos in the AMANDA neutrino telescope. Data for this analysis were recorded during 1001 days of detector livetime in the years 2000-2004. The observed event rates are consistent with the background expectation from atmospheric neutrinos and muons. An upper limit is derived for the diffuse flux of neutrinos of all flavors assuming a flavor ratio of v(e):v(mu):v(tau) = 1:1:1 at the detection site. The all-flavor flux of neutrinos with an energy spectrum Phi proportional to E(-2) is less than 5.0 x…
Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".
2018
Familial chylomicronaemia syndrome (FCS) is a rare, inherited disorder characterised by impaired clearance of triglyceride (TG)-rich lipoproteins from plasma, leading to severe hypertriglyceridaemia (HTG) and a markedly increased risk of acute pancreatitis. It is due to the lack of lipoprotein lipase (LPL) function, resulting from recessive loss of function mutations in the genes coding LPL or its modulators. A large overlap in the phenotype between FCS and multifactorial chylomicronaemia syndrome (MCS) contributes to the inconsistency in how patients are diagnosed and managed worldwide, whereas the incidence of acute hypertriglyceridaemic pancreatitis is more frequent in FCS. A panel of Eu…