Search results for "Abnormality"
showing 10 items of 62 documents
Prevalence and risk factors for sensorineural hearing loss: Western Sicily overview.
2013
The objective of this work was to evaluate the prevalence of sensorineural hearing loss (SNHL) and distribution of the main risk factors associated to it focusing on their role in the development of deafness and their interaction. We performed a global audiological assessment (through TEOAE, tympanometry and ABR) in 508 infants at risk studying the main risk factors reported by Joint Committee on Infant Hearing (2007). Fifty-one infants (10.03 %) were diagnosed with SNHL (45 bilateral and 6 unilateral) with a mean hearing threshold of 87.39 ± 28.25 dB HL; family history of hearing impairment (HI) and TORCH infections indicated independent significant risk factors (P < 0.00001 and P = 0.0…
First results of a European multi-center registry of patients with anorectal malformations.
2013
Background: The European consortium on anorectal malformations (ARM-NET) was established to improve the health care of patients and to identify genetic and environmental risk factors. The aim of the present study was to present the first results on clinical data of a large European cohort of ARM patients based on our registry. Methods: In 2010, the registry was established including patient characteristics and data on diagnosis, surgical therapy, and outcome regarding complications. Patients born between 2007 and 2012 were retrospectively added. A descriptive analysis of this cohort was performed. Results: Two hundred and three ARM patients were included. Syndromes or chromosomal abnormalit…
Primary double teeth. A retrospective clinical study of their morphological characteristics and associated anomalies
2000
Aim. To investigate the relationship between morphology and position of double teeth, and the occurrence of other dental anomalies in the same subjects and in their siblings. Sample of children and methods. Fifty-three double teeth in a group of 50 Spanish children were included in the study. All of these children were examined clinically and had radiographs and photographs taken at the time of examination. Twenty-two of the children had a total of 30 siblings who were also examined for the presence of anomalies. Results. Of the 50 subjects, 47 had one and three subjects had two double teeth. Statistically there were no significant differences in occurrence between boys and girls, left and …
Intereye Spatial Relationship of Abnormal Neuroretinal Rim Locations in Glaucoma Patients from the Diagnostic Innovations in Glaucoma Study
2006
Purpose To determine the spatial relationship in neuroretinal rim parameter values between eyes in ocular hypertensives, glaucoma suspects, and glaucoma patients. Design Observational-cross-sectional study. Methods A total of 334 eyes of 167 patients were included. All patients underwent confocal scanning laser ophthalmoscopy imaging in both eyes. Intereye concordance ratio of abnormal rim sectors as classified by the Moorfield regression analysis (MRA) was calculated as the ratio of matching abnormal rim areas to the total number of abnormal rim areas. The amount of agreement was calculated for each sector separately. Results Of the right (left) eyes, 39 (39) eyes were classified “borderli…
Specific patterns of laryngeal electromyography during wakefulness are associated to sleep disordered breathing and nocturnal stridor in multiple sys…
2016
Abstract Background Nocturnal stridor and respiratory abnormalities are important features of multiple system atrophy (MSA) with relevance to patient survival, and they are detected and evaluated mainly through video-polysomnography (video-PSG). Diurnal laryngoscopy seems to yield abnormal findings only in the presence of significant vocal cord (VC) dysfunction. Aim To assess whether specific electrophysiological patterns of diurnal EMG of VC muscles may indicate nocturnal stridor or respiratory dysfunctions in MSA patients. Materials and methods Seventeen patients with probable MSA were examined. A full-night video-PSG to collect standard breathing parameters (apnea/hypopnea index, mean Hb…
Impact of cardiac rehabilitation exercise program on left ventricular diastolic function in coronary artery disease: a pilot study.
2012
Abstract Diastolic dysfunction is common in coronary artery disease (CAD). Exercise-based cardiac rehabilitation (CR) improves survival and quality of life but its effect on diastolic function is unclear. We sought to determine the impact of CR on diastolic function. We conducted a prospective study of CAD patients referred for 3-month outpatient CR, with pre-CR and post-CR echocardiograms. Twenty-five outpatients (age [mean ± SD], 66 ± 11 years; 7 [28 %] women; 22 [88 %] with recent acute coronary syndrome) were recruited upon beginning CR; one patient lacking follow-up was excluded from analysis. Before CR, patients' mean ejection fraction was 61 ± 7 %; regional wall motion score index wa…
Minimal Change Esophagitis: Prospective Comparison of Endoscopic and Histological Markers between Patients with Non-Erosive Reflux Disease and Normal…
2004
<i>Introduction:</i> More than half the patients with gastroesophageal reflux disease (GERD) show no endoscopic abnormality or minimal change esophagitis (non-erosive reflux disease, NERD). We investigated the value of endoscopic and histological markers for the prediction of NERD before and after treatment with 20 mg esomeprazole. <i>Methods:</i> Between July and October 2002, consecutive patients presenting for upper endoscopy were stratified into GERD and non-reflux patients (control group) with the help of a questionnaire. The endoscopist was blind to the presence of reflux symptoms. Using magnifying endoscopes minimal change esophagitis was defined by the presen…
Temporal abnormalities in children with developmental dyscalculia.
2012
Recent imaging studies have associated Developmental dyscalculia (DD) to structural and functional alterations corresponding Parietal and the Prefrontal cortex (PFC). Since these areas were shown also to be involved in timing abilities, we hypothesized that time processing is abnormal in DD. We compared time processing abilities between 10 children with pure DD (8 years old) and 11 age-matched healthy children. Results show that the DD group underestimated duration of a sub-second scale when asked to perform a time comparison task. The timing abnormality observed in our DD participants is consistent with evidence of a shared fronto-parietal neural network for representing time and quantity.…
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
2019
Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…
Prenatal Ultrasound Screening: False Positive Soft Markers May Alter Maternal Representations and Mother-Infant Interaction
2012
Background In up to 5% of pregnancies, ultrasound screening detects a “soft marker” (SM) that places the foetus at risk for a severe abnormality. In most cases, prenatal diagnostic work-up rules out a severe defect. We aimed to study the effects of false positive SM on maternal emotional status, maternal representations of the infant, and mother-infant interaction. Methodology and Principal Findings Utilizing an extreme-case prospective case control design, we selected from a group of 244 women undergoing ultrasound, 19 pregnant women whose foetus had a positive SM screening and a reassuring diagnostic work up, and 19 controls without SM matched for age and education. In the third trimester…