Search results for "lasi"
showing 10 items of 1298 documents
Biologic relevance of elevated red cell adenosine deaminase activity in myelodysplastic syndromes and paroxysmal nocturnal hemoglobinuria.
1992
Red cell adenosine deaminase (ADA-RBC) activity in patients with myelodysplastic syndromes and paroxysmal nocturnal hemoglobinuria is significantly increased compared to that observed in normal controls. ADA-RBC activity is not related to fetal hemoglobin concentration, but it is significantly correlated with hemoglobin concentration at diagnosis and with the degree of morphologic dysplasia in the erythroid lineage. The results of our study suggest that the observed enzymatic abnormality may constitute a non-specific manifestation of the stem cell alteration that determines these disorders.
Basaloid squamous cell carcinoma of the esophagus: diagnosis and prognosis.
1997
BACKGROUND. Basaloid squamous cell carcinoma (BSCC) is a recently recognized, poorly differentiated variant of squamous cell carcinoma (SCC), which is located predominantly in the upper aerodigestive tract. METHODS. In this study, clinical and pathologic parameters of 17 BSCCs and 133 typical SCCs of the esophagus that underwent potentially curative resection (no distant metastases, no residual tumor) were compared. In addition, light microscopic, electron microscopic, and immunohistochemical features of BSCC were investigated, to determine whether this type of carcinoma could be differentiated from other poorly differentiated carcinomas of the esophagus. RESULTS. Light microscopic study sh…
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
2012
International audience; The 2q37 locus is one of the most commonly deleted subtelomeric regions. Such a deletion has been identified in >100 patients by telomeric fluorescence in situ hybridization (FISH) analysis and, less frequently, by array-based comparative genomic hybridization (array-CGH). A recognizable ‘2q37-deletion syndrome’ or Albright’s hereditary osteodystrophy-like syndrome has been previously described. To better map the deletion and further refine this deletional syndrome, we formed a collaboration with the Association of French Language Cytogeneticists to collect 14 new intellectually deficient patients with a distal or interstitial 2q37 deletion characterized by FISH and …
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
2005
Background: Mutations of oligophrenin 1, one of the first genes identified in nonspecific X-linked mental retardation (MRX), have been described in patients with moderate to severe cognitive impairment and predominant cerebellar hypoplasia, in the vermis. Objective: To further delineate the phenotypic and mutational spectrum of the syndrome, by screening oligophrenin 1 in two cohorts of male patients with mental retardation (MR) with or without known posterior fossa anomalies. Methods: Clinical examination, cognitive testing, MRI studies, and mutational analysis (denaturing gradient gel electrophoresis and direct sequencing) on blood lymphocytes were performed in 213 unrelated affected indi…
Hemispheric cerebellar rTMS to treat drug-resistant epilepsy: case reports.
2005
Electrical stimulation of the cerebellar cortex by implanted electrodes has been shown to ameliorate refractory epilepsy. We investigated the potential therapeutic role of high-frequency cerebellar rTMS in patients affected by refractory epilepsy due to single or multiple foci. Six patients, three with single and three with multiple epileptic foci, underwent 20 rTMS sessions. Each session was given daily, excluding weekends, and consisted of two trains of 50 stimuli (5 Hz frequency and 90% motor threshold intensity), separated by 50s interval. rTMS was delivered through a focal coil (2 cm below and lateral to the inion) bilaterally in patients with multiple foci (two trains for hemisphere: …
Evaluation of texture analysis for the differential diagnosis of focal nodular hyperplasia from hepatocellular adenoma on contrast-enhanced CT images
2018
PurposeTo explore the value of CT texture analysis (CTTA) for differentiation of focal nodular hyperplasia (FNH) from hepatocellular adenoma (HCA) on contrast-enhanced CT (CECT).MethodsThis is a retrospective, IRB-approved study conducted in a single institution. A search of the medical records between 2008 and 2017 revealed 48 patients with 70 HCA and 50 patients with 62 FNH. All lesions were histologically proven and with available pre-operative CECT imaging. Hepatic arterial phase (HAP) and portal venous phase (PVP) were used for CTTA. Textural features were extracted using a commercially available research software (TexRAD). The differences between textural parameters of FNH and HCA wer…
An evaluation of clinical, radiological and three-dimensional dental tomography findings in ectodermal dysplasia cases
2015
Background:This study aimed to review the results related to head and jaw disorders in cases of ectodermal dysplasia. The evaluation of ectodermal dysplasia cases was made by clincal examination and examination of the jaw and facial areas radiologically and on cone-beam 3-dimensional dental tomography (CBCT) images. Material and Methods: In the 36 cases evaluated in the study, typical clinical findings of pure hypohidrotic ectodermal displasia (HED) were seen, such as missing teeth, dry skin, hair and nail disorders. CBCT images were obtained from 12 of the 36 cases, aged 1.5- 45 years, and orthodontic analyses were made on these images. Results: The clinical and radiological evaluations de…
Double-Balloon Enteroscopy: Preliminary Experience in Patients with Obscure Gastrointestinal Bleeding or Chronic Abdominal Pain
2003
Background and Study Aims: Even in the era of capsule endoscopy, diseases of the small bowel are sometimes difficult to diagnose, and endoscopic treatment is not possible without surgical laparotomy. The new method of carrying out enteroscopy using a double-balloon technique allows not only diagnostic but also therapeutic endoscopic interventions for lesions in the small bowel. Preliminary experience with this new method is reported here. Patients and Methods: Between the end of March 2003 and August 2003, eight patients (four women, four men; mean age 59 ± 23 years, range 20 - 90) with chronic gastrointestinal bleeding or abdominal pain, or both, underwent enteroscopy using the double-bal…
Prospective, cross-over, single-center trial comparing oral double-balloon enteroscopy and oral spiral enteroscopy in patients with suspected small-b…
2011
BACKGROUND AND STUDY AIMS: Spiral enteroscopy is a new, promising rapid enteroscopy technique. A prospective cross-over study was carried out to compare this new method with the established technique of double-balloon enteroscopy (DBE). PATIENTS AND METHODS: From an initial group of 18 patients with suspected mid-gastrointestinal bleeding due to vascular malformations but no previous history of small-bowel or colonic surgery, 10 patients (mean age 69 years) completed the study. Patients underwent both enteroscopy techniques with an oral approach, in a randomized sequence. The deepest point reached during advancement in the first enteroscopy was marked with India ink. The primary end point o…
Double-balloon enteroscopy (push-and-pull enteroscopy) of the small bowel: feasibility and diagnostic and therapeutic yield in patients with suspecte…
2005
Background Double-balloon enteroscopy (push-and-pull enteroscopy) is a new method that allows complete visualization, biopsy, and treatment in the small bowel. This study evaluated the feasibility and the diagnostic and the therapeutic yield of double-balloon enteroscopy (push-and-pull enteroscopy) in comparison with current imaging methods. Methods Between March 2003 and November 2004, 248 consecutive double-balloon enteroscopies (push-and-pull enteroscopies) were performed in a prospective study in 137 patients with suspected small-bowel disease (60 women, 77 men; mean age 56.6 ± 17.8 years), most with chronic GI bleeding (66%). The examinations were carried out after negative evaluations…