Search results for "Multiple"

Balance of T1-weighted images before and after application of a paramagnetic substance (Gd-DTPA)

1987

Ten patients with encephalitis disseminata and 10 patients with cerebral ischemia underwent computed tomography and magnetic resonance imaging examinations. The results before and after the application of contrast media were compared. It is shown that T1-weighted MRI images, even after application of gadolinium-DTPA, are of little value for differential diagnosis of these diseases. In contrast, T2-weighted images did support the diagnosis of an acute stage of encephalitis disseminata versus acute ischemia. This was also true for lesions that had not been adequately depicted by computed tomography.

Forty-two supernumerary marker chromosomes (SMCs) in 43,273 prenatal samples: chromosomal distribution, clinical findings, and UPD studies.

2005

Fluorescence in situ hybridization (FISH) analyses were performed on supernumerary marker chromosomes (SMCs) detected in 43 273 prenatal diagnoses over a period of 11 years, 1993–2003. A total of 42 pregnancies with SMC were identified, indicating a prevalence of one in 1032. A total of 15 SMCs were endowed with detectable euchromatin (prevalence, 1/2884), including six SMCs containing the cat eye critical region (CECR) on chromosome 22q11.21 (1/7212). De novo SMCs were found in 29 pregnancies (1/1492), including 14 euchromatic SMCs (48.2%). Follow-up studies were available for 24 cases. Nine pregnancies (37.5%) were terminated; two children (8.3%) were born with Pallister–Killian syndrome …

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region

2010

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

2012

International audience; Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagnosis is only made on the basis of the clinical phenotype. The majority of cases appeared to be sporadic but rare cases following autosomal dominant inheritance have been reported. We identified a 4.7 Mb de novo 12q15-q21.1 microdeletion in a patient with FHS and intellectual deficiency. Pangenomic 244K array-CGH performed in a series of 12 patients with FHS failed to identify overlapping deletions. We hypothesized that FHS is caused by haploinsuf…

Not All Floating-Harbor Syndrome Cases are Due to Mutations in Exon 34 of SRCAP

2013

International audience; Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We report here the molecular analysis of nine cases, fulfilling the diagnostic criteria for FHS. Using exome sequencing, we identified SRCAP as the disease gene in two cases and subsequently found SRCAP truncating mutations in 6/9 cases. All mutations occurred de novo and were located in exon 34, in accordance with the recent report of Hood et al. However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. Importantly, no major clinical differences were observed supporting clinical h…

Identification and expansion of human osteosarcoma-cancer-stem cells by long-term 3-aminobenzamide treatment

2009

A novel cancer stem-like cell line (3AB-OS), expressing a number of pluripotent stem cell markers, was irreversibly selected from human osteosarcoma MG-63 cells by long-term treatment (100 days) with 3-aminobenzamide (3AB). 3AB-OS cells are a heterogeneous and stable cell population composed by three types of fibroblastoid cells, spindle-shaped, polygonal-shaped, and rounded-shaped. With respect to MG-63 cells, 3AB-OS cells are extremely smaller, possess a much greater capacity to form spheres, a stronger self-renewal ability and much higher levels of cell cycle markers which account for G1-S/G2-M phases progression. Differently from MG-63 cells, 3AB-OS cells can be reseeded unlimitedly wit…

Multi-body-site colonization screening cultures for predicting multi-drug resistant Gram-negative and Gram-positive bacteremia in hematological patie…

2022

Abstract Background To investigate the multi-drug resistant bacteria (MDRB) colonization rate in hematological patients hospitalized for any cause using a multi-body-site surveillance approach, and determine the extent to which this screening strategy helped anticipate MDRB bloodstream infections (BSI). Methods Single-center retrospective observational study including 361 admissions documented in 250 adult patients. Surveillance cultures of nasal, pharyngeal, axillary and rectal specimens (the latter two combined) were performed at admission and subsequently on a weekly basis. Blood culture samples were incubated in an automated continuous monitoring blood culturing instrument (BACTEC FX). …

Laparoscopic-ultrasonographic combined technique for the creation of a neovagina in Mayer-Rokitansky-Kuster-Hauser syndrome

1996

Objective To create a neovagina using a combined laparoscopic and ultrasonographic technique in Mayer-Rokitansky-Kuster-Hauser syndrome by modification of Vecchietti's operation. Design Case report. Setting Division of Physiopathology of Reproduction, University of Palermo, Palermo, Italy. Main Outcome Measure(s) The advancement of the needle from the pseudohymen, through the vesicorectal space using a triple contrast ultrasonographic technique. Result(s) The ultrasonographic scanning guides the accurate transit from external genitalia to the peritoneal cavity. Conclusion(s) This original approach allowed a safe and rapid creation of a neovagina in a case of Mayer-Rokitansky-Kuster-Hauser s…

Harmonization of real-world studies in multiple sclerosis: Retrospective analysis from the rirems group

2020

Background: Worldwide multiple sclerosis (MS) centers have coordinated their efforts to use data acquired in clinical practice for real-world observational studies. In this retrospective study, we aim to harmonize outcome measures, and to evaluate their heterogeneity within the Rising Italian Researchers in MS (RIReMS) study group. Methods: RIReMS members filled in a structured questionnaire evaluating the use of different outcome measures in clinical practice. Thereafter, thirty-four already-published papers from RIReMS centers were used for heterogeneity analyses, using the DerSimonian and Laird random-effects method to compute the between-study variance (τ2). Results: Based on questionna…

Bilateral cystic pulmonary glial heterotopia and palatinal teratoma causing respiratory distress in an infant

2009

We report on a male infant with extensive, bilateral cystic and solid lung lesions who presented postnatally with respiratory distress caused by bilateral cystic lung lesions. Parenchyma-sparing resections were performed. Histology revealed the presence of neuroglial cell-lined cysts and glial nodules. In addition, a neural element containing palatinal teratoma was detected and excised. Based on previously published cases, the pathogenesis and clinical features of pulmonary neuroglial heterotopia are discussed.