Search results for "Mali"
showing 10 items of 3900 documents
Synovial sarcoma and malignant mesothelioma of the pleura: Review, differential diagnosis and possible role of apoptosis
2001
Synovial sarcoma of the pleural cavity is exceptionally rare and may be confused, both clinically and histologically, with malignant mesothelioma, with subsequent inappropriate therapy. To address this dilemma, four biphasic synovial sarcomas (BSSs) and four biphasic malignant mesotheliomas (BMMs) were studied with a panel of mucin and immunohistochemical stains to determine if they would allow one to distinguish between the two. The BMMs were all pleural-based. The BSSs were extrapleural. The mucin and immunohistochemical stains were all performed on formalin-fixed, paraffin-embedded tissue using standard techniques, with appropriate positive and negative controls. Mucin present in BSS is,…
New syndrome: Autosomal dominant microcephaly and radio-ulnar synostosis
1994
To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1). © 1994 Wiley-Liss, Inc.
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
2007
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …
Hereditary motor sensory neuropathy type II with neurofilament accumulation: new finding or new disorder?
1985
Peroneal muscular atrophy is now known to be heterogeneous and to be due to various underlying genetic mechanisms. Exploring this heterogeneity further, we report on a German kinship with the clinical, genetic, and nerve conduction features of hereditary motor and sensory neuropathy type II (HMSN type II) but whose sural nerves on biopsy were found to show infrequent axonal swellings with neurofilament accumulations not previously described. The dominant inheritance and absence of kinky hair set this disorder apart from giant axonal neuropathy. There was no history of toxic exposure to industrial chemicals. We conclude that the disorder either is a new type of HMSN or is HMSN type II with p…
End-plate dysfunction in acute organophosphate intoxication.
1989
Acute organophosphate intoxication resulting from suicide attempts in 14 patients produced a series of electrophysiologic abnormalities that correlated with the clinical course. Spontaneous repetitive firing of single evoked compound muscle action potentials (CMAP) was the earliest and most sensitive indicator of the acetylcholinesterase inhibition. A decrement of evoked CMAP following repetitive nerve stimulation was the most severe abnormality. At the height of the intoxication no CMAP was evoked after the first few stimuli. The decrement-increment phenomenon occurred only at milder stages of intoxication and its features are characteristic of acetylcholinesterase inhibition. These electr…
Spatial variability of muscle activity during human walking: The effects of different EMG normalization approaches
2015
Human leg muscles are often activated inhomogeneously, e.g. in standing. This may also occur in complex tasks like walking. Thus, bipolar surface electromyography (sEMG) may not accurately represent whole muscle activity. This study used 64-electrode high-density sEMG (HD-sEMG) to examine spatial variability of lateral gastrocnemius (LG) muscle activity during the stance phase of walking, maximal voluntary contractions (MVCs) and maximal M-waves, and determined the effects of different normalization approaches on spatial and inter-participant variability. Plantar flexion MVC, maximal electrically elicited M-waves and walking at self-selected speed were recorded in eight healthy males aged 2…
Dual-Energy CT Material Density Iodine Quantification for Distinguishing Vascular From Nonvascular Renal Lesions: Normalization Reduces Intermanufact…
2019
OBJECTIVE. The purpose of this study was to determine whether a single, uniform normalized iodine threshold reduces variability and enables reliable differentiation between vascular and nonvascular renal lesions independent of the dual-energy CT (DECT) platform used. MATERIALS AND METHODS. In this retrospective, HIPAA-compliant, institutional review board-approved study, 247 patients (156 men, 91 women; mean age ± SD, 67 ± 12 years old) with 263 renal lesions (193 nonvascular, 70 vascular) underwent unenhanced single- energy and contrast-enhanced DECT scans. One hundred and six nonvascular and 38 vascular lesions were scanned on two dual-source DECT (dsDECT) scanners, and 87 nonvascular and…
Periodontal health and esthetic results in impacted teeth exposed by apically positioned flap technique.
2010
Objectives: This study evaluates the periodontal health status and the esthetic results of teeth subjected to orthodontic traction, after their exposure by an apically positioned flap. Study design: Fifteen patients were included in the study, ages between 11 and 28 years old. The fenestrated teeth and their homologous contralateral normally erupted teeth, used as control, were evaluated. Results: Statistically significant differences were found in the position of the gingival margin (p = 0.005), with an average distance between cemento-enamel junction (CEJ) and gingival margin of 2.47 mm (SD 1.19) in control teeth and of 1 mm (SD 1.31) in the operated teeth, and in the depth of palatal pro…
Rationale and Design of the International Lymphoma Epidemiology Consortium (InterLymph) Non-Hodgkin Lymphoma Subtypes Project
2014
Background: Non-Hodgkin lymphoma (NHL), the most common hematologic malignancy, consists of numerous subtypes. The etiology of NHL is incompletely understood, and increasing evidence suggests that risk factors may vary by NHL subtype. However, small numbers of cases have made investigation of subtype-specific risks challenging. The International Lymphoma Epidemiology Consortium therefore undertook the NHL Subtypes Project, an international collaborative effort to investigate the etiologies of NHL subtypes. This article describes in detail the project rationale and design. Methods: We pooled individual-level data from 20 case-control studies (17 471 NHL cases, 23 096 controls) from North Ame…
Factors affecting recurrence and progression in superficial bladder tumours
1995
Prognostic factors in superficial bladder tumours are highly correlated with each other. In this study, their relative importance is examined and grouping of patients in three different prognostic groups suggested. 576 patients (from EORTC protocols 30790 and 30782) were analysed. They have been followed from 3 months to 8.6 years with a median of 4 years. 76 patients developed an invasive tumour (or = T2); the shortest time to invasion was 12 weeks, the longest was 6.6 years. Time from invasion to death ranged from 3 weeks to 4.4 years with a median of 2 years. Prognostic factors contributing to recurrence, invasion and survival were investigated: age, sex, size of largest tumour, number o…