Search results for " DIAGNOSIS"

Validation study of the Italian Addenbrooke’s Cognitive Examination Revised in a young-old and old-old population

2011

<i>Aims:</i> The main aims of the study were the translation and the subsequent validation in Italian of the Addenbrooke’s Cognitive Examination Revised (ACE-R), and the evaluation of its usefulness in discriminating cognitively normal subjects from patients with mild dementia in an elderly population. <i>Methods:</i> The ACE-R was translated and adapted into Italian. The Italian ACE-R was administered to a group of 179 elderly subjects (72 cognitively healthy and 107 subjects with mild dementia, mean age 75.4 ± 6.4 years). The group was stratified into two subsamples according to age, i.e. a young-old (<75 years) and an old-old (≧75 years) group, in order to eval…

Adverse Clinical Events and Mortality During Hospitalization and 3 Months After Discharge in Cognitively Impaired Elderly Patients

2012

BACKGROUND: Controversial findings are reported on hospital outcome in cognitively impaired patients. The aim of this study was to explore mortality risk according to cognitive status during hospitalization and after 3 months in elderly patients. METHODS: Sixty-six internal medicine and geriatric wards in Italy participated in the "Registry Politerapie SIMI (REPOSI)" during 2010. Of the 1,380 in-patients, aged 65 and older enrolled, 1,201 were included. Cognition was evaluated with the Short Blessed Test (SBT). Logistic regression was used to evaluate the association of questionable and impaired cognition (according to SBT cutoff points) with mortality during hospitalization and at follow-u…

Factors that influence treatment delay in patients with colorectal cancer

2016

// Irene Zarcos-Pedrinaci 1, 11 , Alberto Fernandez-Lopez 2 , Teresa Tellez 1, 11 , Francisco Rivas-Ruiz 1, 11 , Antonio Rueda A 3, 11 , Maria Manuela Morales Suarez-Varela 4 , Eduardo Briones 5 , Marisa Bare 6, 11 , Antonio Escobar 7, 11 , Cristina Sarasqueta 8, 11 , Nerea Fernandez de Larrea 9, 11 , Urko Aguirre 10, 11 , Jose Maria Quintana 10, 11 , Maximino Redondo 1, 11 and On Behalf of the CARESS-CCR Study Group 1 Research Unit, Agencia Sanitaria Costa del Sol, Marbella, Spain 2 Servicio de Cirugia, Agencia Sanitaria Costa del Sol, Marbella, Spain 3 Servicio de Oncologia Medica, Agencia Sanitaria Costa del Sol, Marbella, Spain 4 Unit of Public Health, Hygiene and Environmental Health, …

2020

IntroductionMental health is marked by gender differences. We formed a multi-cohort consortium to perform GEnder-Sensitive Analyses of mental health trajectories and study their implications for prevention (GESA). GESA aims at (1) identifying gender differences regarding symptoms and trajectories of mental health over the lifespan; (2) determining gender differences regarding the prevalence, impact of risk and protective factors; and (3) determining effects of mental health on primary and secondary outcomes (eg, quality of life, healthcare behaviour and utilisation).Methods and analysisWe plan to perform secondary analyses on three major, ongoing, population-based, longitudinal cohorts (Gut…

The mucopolysaccharidoses: Inborn errors of glycosaminoglycan catabolism

1976

The mucopolysaccharidoses are genetic disorders of glycosaminoglycan metabolism. Patients with these diseases accumulate within the lysosomes of most tissues excessive amounts of dermatan and/or heparan sulfates, or of keratan sulfate. The clinical consequences of such glycosaminoglycan storage range from skeletal abnormalities to cardiovascular problems, and to motor and mental retardation. In all mucopolysaccharidoses, except Morquio disease, an excessive accumulation of sulfate-labeled glycosaminoglycans has been demonstrated in fibroblasts cultured from the patient's skin. It was subsequently shown that this was due to the deficiency of specific proteins which were named "corrective fac…

Differential diagnosis of cytomegalovirus infection and acute rejection by serum CC-Chemokine measurement after orthotopic liver transplantation

2003

Incremental Gaussian Discriminant Analysis based on Graybill and Deal weighted combination of estimators for brain tumour diagnosis

2011

In the last decade, machine learning (ML) techniques have been used for developing classifiers for automatic brain tumour diagnosis. However, the development of these ML models rely on a unique training set and learning stops once this set has been processed. Training these classifiers requires a representative amount of data, but the gathering, preprocess, and validation of samples is expensive and time-consuming. Therefore, for a classical, non-incremental approach to ML, it is necessary to wait long enough to collect all the required data. In contrast, an incremental learning approach may allow us to build an initial classifier with a smaller number of samples and update it incrementally…

Prenatally detected double trisomy: Klinefelter and Down syndrome

2006

Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of u…

Das Kagami-Ogata-Syndrom: Eine Rippenanomalie als pathognomonisches Korrelat für die klinische Diagnose eines (epi)genetischen Syndroms

2019

ZusammenfassungInnerhalb von 4 Jahren (2014–2017) haben wir 2 Neugeborene mit der genetisch gesicherten Diagnose eines Kagami-Ogata-Syndroms (OMIM #608149) betreut. Pränatal fielen bei beiden Föten ein Polyhydramnion und in einem Fall eine Hepatomegalie auf. Beide Patienten litten postnatal unter einer respiratorischen Insuffizienz und wiesen mit einer Muskelhypotonie, einem vorspringenden Philtrum, vollen Wangen sowie einer breiten Nasenwurzel die typischen phänotypischen Merkmale dieses Imprinting-Defekts auf. Wegweisend für die Diagnosestellung waren die kleiderbügelförmigen Rippen („coat-hanger ribs“) und der glockenförmige Thorax (bell-shaped thorax) im Röntgenbild. Das Kagami-Ogata-Sy…

Pränatale Diagnostik der Sialidose, eines Defektes des lysosomalen Enzyms Neuraminidase

1988

Die Sialidose, eine lysosomale Speicherkrankheit aus der Gruppe der Oligosaccharidosen, ist ein genetischer Enzymdefekt mit stark eingeschrankter Lebenserwartung des betroffenen Kindes. Nach vorheriger Geburt eines an dieser Erkrankung verstorbenen Kindes gelang mit Hilfe der biochemischen Analyse von Amnionzellen der korrekte pranatale Ausschlus einer Sialidose unter Voraussage eines heterozygoten Ubertragerstatus. Aus nicht geklarter Ursache war das Wachstum sowohl der Amnionzellen als auch der postnatal untersuchten Fibroblasten deutlich vermindert. Diese Beobachtung sollte bei weiteren pranatalen Untersuchungen uberpruft werden. Die Moglichkeit der pranatalen Diagnostik einer Sialidose …