Search results for " DIAGNOSIS"
showing 10 items of 1378 documents
Differential diagnosis of behavioral variant of fronto-temporal dementia (bvFTD)
2011
Background: The aim of the paper is the differential diagnosis of various types of Fronto-Temporal Dementia (FTD), with the focus on its behavioural variant (bvFTD). Material/Method: Material and Method. Screening was done in order to assess the depth of dementia with the short version of MMSE, while evaluation of various variants of FTD was performed with the use of such neuropsychological tests as Newcomb and Chicago Fluency Tests, Wechsler Memory Scale - III (WMS-III), Western Aphasia Battery (WAB-R), and the Boston Naming Test (BNT). Behaviour was evaluated with a Polish version of the Frontal Behavioral Inventory (FBInv). The inventory consists of 24 questions which enable an evaluatio…
Monochorionic twin pregnancy: screening, pathogenesis of complications and management in the era of microinvasive fetal surgery
2010
Objective The management of monochorionic (MC) twin pregnancies varies in different medical centers. This paper compares screening methods to predict the complications of the MC twin pregnancy and different treatment methods. Methods We performed a literature search without language restriction in Cochrane library and PubMed (1970-2009). Case series and cohort screening studies, pathogenesis and management of complications of MC pregnancy were included. Results Elevated risk for intrauterine fetal death (IUFD) and twin-to-twin transfusion syndrome (TTTS) can be detected sonographically. Monitoring of MC pregnancies at increased risk and regular training sessions for the operating team combi…
Genome-Wide Expression Profiles in Very Low Birth Weight Infants With Neonatal Sepsis
2014
BACKGROUND: Bacterial sepsis is associated with high morbidity and mortality in preterm infants. However, diagnosis of sepsis and identification of the causative agent remains challenging. Our aim was to determine genome-wide expression profiles of very low birth weight (VLBW) infants with and without bacterial sepsis and assess differences. METHODS: This was a prospective observational double-cohort study conducted in VLBW (<1500 g) infants with culture-positive bacterial sepsis and non-septic matched controls. Blood samples were collected as soon as clinical signs of sepsis were identified and before antibiotics were initiated. Total RNA was processed for genome-wide expression an…
Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family
1995
A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. "Idiopathic" hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unus…
Pigmented villonodular synovitis of the shoulder: review and case report
1999
Pigmented villonodular synovitis (PVNS) as reviewed in detail elsewhere most frequently involves the knee and finger synovial structures; shoulder involvement is rare: A search through the English literature yielded 18 publications describing 25 cases of PVNS affecting the shoulder joint. Analyzing these reports we found the clinical and radiological findings generally to be nonspecific, often mimicking a malignancy, as in the case presented here of a 16-year-old boy with painful swelling in the area of the left proximal humerus. Magnetic resonance imaging showed a suspected malignant soft tissue mass involving the shoulder capsule and measuring 7.5 x 6 x 4 cm. Preoperatively the patient co…
Cancer prevalence is increased in females with sleep apnoea: data from the ESADA study
2019
[No abstract available]
Diagnostic accuracy of computed tomographic colonography for the detection of advanced neoplasia in individuals at increased risk of colorectal cance…
2009
CONTEXT: Computed tomographic (CT) colonography has been recognized as an alternative for colorectal cancer (CRC) screening in average-risk individuals, but less information is available on its performance in individuals at increased risk of CRC. OBJECTIVE: To assess the accuracy of CT colonography in detecting advanced colorectal neoplasia in asymptomatic individuals at increased risk of CRC using unblinded colonoscopy as the reference standard. DESIGN, SETTING, AND PARTICIPANTS: This was a multicenter, cross-sectional study. Individuals at increased risk of CRC due to either family history of advanced neoplasia in first-degree relatives, personal history of colorectal adenomas, or positiv…
Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings.
2008
Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledg…
Defining the course of tumefactive multiple sclerosis: A large retrospective multicentre study
2021
Background and purpose: Tumefactive multiple sclerosis (TuMS) (i.e., MS onset presenting with tumefactive demyelinating lesions [TDLs]) is a diagnostic and therapeutic challenge. We performed a multicentre retrospective study to describe the clinical characteristics and the prognostic factors of TuMS. Methods: One hundred two TuMS patients were included in this retrospective study. Demographic, clinical, magnetic resonance imaging (MRI), laboratory data and treatment choices were collected. Results: TuMS was found to affect women more than men (female:male: 2.4), with a young adulthood onset (median age: 29.5 years, range: 11–68 years, interquartile range [IQR]: 38 years). At onset, 52% of …
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
2012
Objectives Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability observed in MFS makes genetic counselling difficult. Prenatal diagnosis (PND) and preimplantation genetic diagnosis are technically feasible when a causal mutation is identified, but both raise many ethical questions in this condition. Little is known about opinions and practices in such reproductive issues in MFS. The goal of this study was to report on patients' points of view and geneticists' standard practices. Methods Two different questionnaires were produced. Results Fifty geneticists fil…