Search results for "abnormality"
showing 10 items of 62 documents
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…
Analysis of chromosomal abnormalities in testicular and epididymal spermatozoa from azoospermic ICSI patients by fluorescence in-situ hybridization
2003
BACKGROUND: An increased incidence of numerical chromosomal abnormalities has been reported in the ejaculated spermatozoa of infertile patients. However, there are few cytogenetic studies of testicular and epididymal spermatozoa, and their results are still controversial. METHODS: Fluorescence in-situ hybridization (FISH) analysis of chromosomes 13, 18, 21, X and Y was performed on seven testicular samples and two epididymal samples from patients with obstructive azoospermia (OA), and on 13 testicular samples from patients with non-obstructive azoospermia (NOA). Five ejaculated sperm samples from normozoospermic fertile donors were evaluated as a control group. RESULTS: Both epididymal sper…
Is Routine Preoperative Upper Endoscopy in Gastric Banding Patients Really Necessary?
2006
Background: Preoperative evaluation for bariatric surgery is complex. Our investigation focused on the necessity for upper gastrointestinal (GI) endoscopy as a routine procedure before performing gastric banding. Methods: A consecutive series of 145 patients underwent laparoscopic adjustable gastric banding (LAGB). Gastroscopy was performed routinely before LAGB. All patients were interviewed before gastroscopy regarding gastroesophageal symptoms. Gastroscopic findings and the results of the interview were blinded and set in comparison. Furthermore, we analyzed whether upper GI symptoms, BMI, age or gender were predictive parameters for pathological findings on gastroscopy. Small hiatal her…
Masseter reflex and blink reflex abnormalities in Chiari II malformation.
2001
Masseter reflex and blink reflex were evaluated in 64 patients with a myelomeningocele and Chiari II malformation. In 46 patients, no brainstem signs or symptoms were present. Brainstem dysfunction related to Chiari II malformation occurred in 18 patients. The masseter reflex was more frequently abnormal in the symptomatic than asymptomatic patients (P = 0.02). Although the blink reflex was similarly affected in the two groups of patients (P > 0.1), it was very sensitive, being abnormal in 83% of symptomatic and 65% of asymptomatic patients. Concomitant abnormality of masseter reflex and the late contralateral blink reflex component (R2c) was almost exclusively found in symptomatic patients…
Electrophysiological patterns of oropharyngeal swallowing in multiple sclerosis.
2012
Abstract Objective We performed an electrophysiological study of swallowing (EPSS) in multiple sclerosis (MS) to describe oropharyngeal swallowing abnormalities and to analyze their correlations with dysphagia and with overall neurological impairment. Methods Neurological examinations were quantified using the Kurtzke Functional Systems and the Expanded Disability Status Scale (EDSS). Dysphagia was evaluated using the Dysphagia in Multiple Sclerosis (DYMUS) questionnaire, while fiberoptic endoscopic evaluation of swallowing (FEES) was used to establish the degree of aspiration and penetration, graded using the penetration–aspiration scale (PAS). The EPSS measured the duration of suprahyoid/…
Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon.
1987
Inquiries to Manuel Diaz Llopis, M.D., Cl Cirilo Amoros No. 1 PTA 2, Valencia 46004, Spain. Familial polyposis of the colon is a dominant autosomal disorder that is characterized by hundreds and sometimes thousands of adenomatous polyps throughout the entire colon, which begin in adolescence. Virtually all pa tients with familial polyposis develop carcino ma of the colon by age 50 years. A total colectomy should be carried out early in adult life in affected persons. Because of the autosomal dominant inheritance pattern, an intensive sur vey of family members must be conducted. There is no phenotype biochemical abnormality or serologic marker that indicates whether a familial member will…
Genomic Abnormalities Acquired in the Blastic Transformation of Splenic Marginal Zone B-cell Lymphoma
2003
Among 20 cases of typical splenic marginal zone lymphoma (SMZL), two cases had blastic transformation. The genetic mechanisms underlying the morphologic transformation were investigated by comparing genetic changes in initial and blastic phases. A complex karyotype including trisomy of 3q and genomic gain of 17q22-q24 was seen in both cases at diagnosis. However, the extra copy of 3q was lost during the transformation process in both tumors. Additionally, the Karpas 1718 cell line, which was derived from a patient with transformed SMZL and carried a trisomy of 3q, also evidenced the spontaneous loss of the extra 3q during the culturing process. Other acquired abnormalities observed exclusiv…
Involvement of the chromosomal region 11q13 in renal oncocytoma: case report and literature review.
1997
Renal oncocytomas comprise a cytogenetically heterogeneous group of tumors consisting potentially of cytogenetic distinguishable subgroups. Review of the literature revealed loss of chromosome 1 and Y as a possible anomaly for at least one subset of oncocytomas. The frequent finding of rearrangements involving chromosome 11 band q13 characterizes another subset of oncocytomas. We report the cytogenetic and pathological features of a renal oncocytoma diagnosed in a 72-year-old woman and found a t(9;11)(p23;q13) as a consistent abnormality. This supports the idea that translocations involving 11q13 define a further subset of oncocytoma. (C) Elsevier Science Inc., 1997.
Parameter Rating by Diffusion Gradient
2014
Anomaly detection is a central task in high-dimensional data analysis. It can be performed by using dimensionality reduction methods to obtain a low-dimensional representation of the data, which reveals the geometry and the patterns that exist and govern it. Usually, anomaly detection methods classify high-dimensional vectors that represent data points as either normal or abnormal. Revealing the parameters (i.e., features) that cause detected abnormal behaviors is critical in many applications. However, this problem is not addressed by recent anomaly-detection methods and, specifically, by nonparametric methods, which are based on feature-free analysis of the data. In this chapter, we provi…
The aristaless (Arx) gene: one gene for many "interneuronopathies".
2009
The ARX (Aristaless-related (X-linked) homeobox) gene is not only present in arthropods and their ancestors, but also in vertebrates including humans (ARX orthologs). The gene is composed of 5 coding exons and it is expressed predominantly in foetal and adult brain and skeletal muscle. In this review we report on our experience and review the existing literature on the genotype and phenotype heterogeneity associated with ARX abnormalities in humans ranging from severe neuronal migration defects (e.g., lissencephaly), to mild forms of X-linked mental retardation without apparent brain abnormalities. The ARX-related disorders are reviewed focusing on their clinical features and on the role of…