Search results for "abnormal"
showing 10 items of 761 documents
Parental occupational exposure to organic solvents and anencephaly in Mexico
2009
Objective: To assess the relationship between parental occupational exposure to organic solvents, and the risk of anencephaly in Mexico. Methods: A case-control study was conducted based on the registers of the Epidemiological Surveillance System for Neural Tube Defects in Mexico; 151 cases of anencephaly of ≥20 weeks’ gestation were included. A control, born alive and without any apparent congenital malformations at birth, was selected for each case in the same maternity service in which the case was born. Information on occupational exposures, lifestyle habits, reproductive history, use of medicines, supplementation with multivitamins and folic acid, was obtained by a general questionnair…
Preserved visual-vestibular interaction in patients with bilateral vestibular failure
2004
Background: During caloric vestibular stimulation, subjects showed bilateral activation of the vestibular cortex in the posterior insula and retroinsular region as well as concurrent deactivation of visual cortex areas bilaterally. This finding was the basis for the concept of a reciprocal inhibitory interaction between the vestibular and the visual systems. Objective: To analyze the modulations of this activation and deactivation pattern in patients with loss of vestibular input, that is, in patients with bilateral vestibular failure (BVF). Methods: Modulations of regional cerebral blood flow (rCBF) in PET were measured in nine patients with BVF and compared with those in healthy volunteer…
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…
Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of vas deferens
2001
Summary The possibility of retrieving spermatozoa from the epididymis allows patients with congenital bilateral absence of the vas deferens (CBAVD) to father a child by means of assisted reproduction techniques. This has, however, increased the chance of transmitting a mutated allele of the cystic fibrosis transmembrane conductance regulator (CFTR) gene which increases the risk of generating offspring with cystic fibrosis (CF). Because of the increased heterogeneity of the CFTR locus, the study of a discrete number of mutations, as usually carried out in a diagnostic work-up, is unable to ascertain the presence of a mutation in a relatively high proportion of the patients screened. In an at…
Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)
2010
Complex regional pain syndrome (CRPS) is a condition that is characterized by severe pain and exaggerated neurogenic inflammation, which may develop after injury or surgery. Neurogenic inflammation is mediated by neuropeptides, such as calcitonin gene-related peptide (CGRP) and substance P (SP) that are released from nociceptors. Genetic factors may play a role in CRPS as was suggested by the occurrence of familial cases and several genetic association studies investigating mainly the human leukocyte antigen (HLA) system. Here we investigated the role of neutral endopeptidase (NEP), a key enzyme in neuropeptide catabolism. NEP dysfunction resulting in reduced inactivation of neuropeptides m…
Is ERCP manometry useful in the choice of treatment of stones of the common bile duct?
1988
To verify the appropriateness of sphincterotomy as the treatment of choice of choledocholithiasis, since 1980 we have been using endoscopic retrograde cholangiopancreatographic (ERCP) manometry of the sphincter of Oddi (SO). This method allows direct investigation of SO motor activity and provides useful information regarding the presence of benign papillary stenosis (BPS). Thirty-four patients were investigated because the radiological examination indicated BPS might be present. Of these, 20 had common bile duct (CBD) stones, while the remaining 14 presented with biliarylike pain and one or more of the following: CBD dilation (larger than 12 mm); emptying of the ERCP contrast medium took l…
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/…
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II
2010
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase. It has multisystemic involvement, with manifestations in the brain, upper respiratory tract, heart, abdomen, joints and bones. Bone involvement leads to decreased growth velocity and short stature in nearly all patients. A therapeutic option for patients with MPS II is enzyme replacement therapy (ERT) with idursulfase (Elaprase®). We compared annual growth rates before and during ERT in 18 patients from Mainz, Germany, and Manchester, UK. Group 1 included nine patients who started ERT before 10 years of age; group 2 contained nine patie…
Clinical experience and perinatal outcome of blastocyst transfer after coculture of human embryos with human endometrial epithelial cells: a 5-year f…
2003
Abstract Objective To evaluate the reproductive and neonatal outcome of blastocyst transfer after coculture with human endometrial epithelial cells in IVF and oocyte donation. Design Retrospective study. Setting Private assisted reproductive center. Patient(s) Two hundred sixty women undergoing IVF and 469 oocyte recipients. Intervention(s) IVF or intracytoplasmic sperm injection (ICSI) and transfer of at least one blastocyst after coculture with human endometrial epithelial cells. Main outcome measure(s) Blastocyst formation rate, implantation and pregnancy rates, neonatal outcome, and congenital birth defects. Results Among patients who had transfer with their own oocytes, 1,193 of 2,349 …