Search results for "Motility disorder"
showing 10 items of 39 documents
Temporal Structure of Human Gaze Dynamics Is Invariant During Free Viewing.
2015
We investigate the dynamic structure of human gaze and present an experimental study of the frequency components of the change in gaze position over time during free viewing of computer-generated fractal images. We show that changes in gaze position are scale-invariant in time with statistical properties that are characteristic of a random walk process. We quantify and track changes in the temporal structure using a well-defined scaling parameter called the Hurst exponent, H. We find H is robust regardless of the spatial complexity generated by the fractal images. In addition, we find the Hurst exponent is invariant across all participants, including those with distinct changes to higher or…
Effect of sulfur dioxide on mucociliary activity and ciliary beat frequency in guinea pig trachea
1994
The effects of 30 min exposure to sulfur dioxide on mucociliary activity (MCA) and ciliary beat frequency (CBF) were studied in 31 guinea pig tracheas. MCA was measured by recording the light reflected from ciliated mucous membranes using an infrared bar code reader. CBF of single ciliated cells obtained by brushing was measured with phase-contrast microscopy. Each tracheal sample was exposed to SO2 at concentrations ranging from 2.5 to 12.5 ppm, or to air for control purposes. MCA and CBF were measured before and immediately after gas exposure. A reduction in mean MCA of 63% (P = 0.0007) and statistically insignificant changes in CBF (P > 0.05) were recorded at concentrations of 2.5 PPM SO…
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
2015
KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of the neural tube. Here, we report homozygous mutations of KIAA0586 in four families affected by lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly. We show defective ciliogenesis, as well as abnormal response to SHH-signaling activation in cells derived from affected individuals, consistent with a role of KIAA0586 in primary cilia biogenesis. Whereas centriolar maturation seemed una…
Could Chronic Idiopatic Intestinal Pseudo-Obstruction Be Related to Viral Infections?
2021
Chronic idiopathic intestinal pseudo-obstruction (CIIPO) is a disease characterized by symptoms and signs of small bowel obstruction in the absence of displayable mechanical obstruction. Due to the known neuropathic capacity of several viruses, and their localization in the intestine, it has been hypothesized that such viruses could be involved in the pathogenesis of CIIPO. The most frequently involved viruses are John Cunningham virus, Herpesviridae, Flaviviruses, Epstein–Barr virus and Citomegalovirus. Therefore, the present narrative review aims to sum up some new perspectives in the etiology and pathophysiology of CIIPO.
Long-term esophageal motility changes after thyroidectomy: associations with aerodigestive disorders.
2017
BACKGROUND: Patients undergoing thyroidectomy often complain aerodigestive disorders. In a previous study we showed the associations between voice impairment and proximal acid reflux, swallowing impairment and Upper Esophageal Sphyncter (UES) incoordination and the decrease in UES pressure in thirty-six patients observed before and soon afterwards uncomplicated thyroidectomy. This study investigated the state of post-thyroidectomy esophageal motility changes and its associations with these disorders after 18-24 months. PATIENTS AND METHODS: The thirty-six patients prospectively recruited according to selection criteria (thyroid volume ≤60 ml, benign disease, age 18-65 years, previous neck s…
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes
2017
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others) to delineate a growing list of OFDS subtypes. The most frequent, OFD type I, is caused by a heterozygous mutation in theOFD1gene encoding a centrosomal protein. The wide clinical heterogeneity of OFDS suggests the involvement of other ciliary genes. For 15 years, we have aimed to identify the molecular bases of OFDS. This effort has been greatly helped by the recent development of whole-exome sequencing (WES). Here, we present all our published and …
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome
2016
Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 and to an in-frame deletion of 26 amino acids in the TM4 domain. It segregates with cognitive impairment or learning difficulties in other members of the family. Mutations in SLC9A6 have been reported in X-linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmo…
Binocular motility system and temporomandibular joint internal derangement: A study in adults
2007
Abstract INTRODUCTION: Ocular convergence defects have been confirmed in adults with temporomandibular joint (TMJ) dysfunction, but few studies of the relationship of the oculomotor apparatus to TMJ disc displacement have been reported. The purpose of this study was to examine the impact of disc displacement on the oculomotor capacity of the eyes in adults. METHODS: Fifty symptomatic patients with bilateral TMJ disc displacement (13 men, 37 women; mean age, 28.84 +/- 8.22 years; range, 18-40 years) were compared with the same number of asymptomatic volunteers with normal disc position (14 men, 36 women; mean age, 29.96 +/- 5.04 years; range, 18-37 years). All subjects underwent standardized…
A Pathway in the Brainstem for Roll-Tilt of the Subjective Visual Vertical: Evidence from a Lesion–Behavior Mapping Study
2012
The perceived subjective visual vertical (SVV) is an important sign of a vestibular otolith tone imbalance in the roll plane. Previous studies suggested that unilateral pontomedullary brainstem lesions cause ipsiversive roll-tilt of SVV, whereas pontomesencephalic lesions cause contraversive roll-tilts of SVV. However, previous data were of limited quality and lacked a statistical approach. We therefore tested roll-tilt of the SVV in 79 human patients with acute unilateral brainstem lesions due to stroke by applying modern statistical lesion–behavior mapping analysis. Roll-tilt of the SVV was verified to be a brainstem sign, and for the first time it was confirmed statistically that lesions…
Primary repair in esophageal atresia: The results of long term follow-up
2006
The aim of this study was to assess the impact of postoperative morbidity during a long-term follow-up (6-12 years) in children with esophageal atresia treated at birth by primary anastomosis.Fifteen children with esophageal atresia and tracheoesophageal fistula were surgically treated at birth and their follow-up was extended to at least 6 up to 12 years. Data included clinical examination, evaluation of nutritional habit, continuous video recording of barium esophagogram, esophageal manometry, 24-h esophageal pH-monitoring and esophageal endoscopy.All the 15 patients completed the clinical evaluation and the set of tests. In the first 6 years, mild dysphagia and gastroesophageal reflux (G…