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Results for “Interruption depth”

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6 recordsLinked to original sources

PubMed2025

Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia.

PURPOSE: In Friedreich ataxia (FRDA) the size of the smaller GAA expansion is a major determinant of disease severity; interruption motifs were identified after the discovery of the pathogenic expansions; however, their impact is only recently investigated. METHODS: 164 patients with FRDA with biallelic expansions and 15 patients without FRDA were analyzed for interruption(s) number, position, and motif. Expansion size and age at onset of ataxia (AAO) were determined for patients with FRDA. RESULTS: Three groups of patients with FRDA were identified by the simultaneous analysis of the precise distance ("depth") between the interruptions (mostly nontriplet) and the 3' end of the expansion (P < .001), the smaller expansion size (P < .001), and AAO (P < .001). Classical FRDA corresponds to absence of interruption or interruption depth < 8 repeats, with AAO often <15 years (area under the curve [AUC] = 0.90; 95% CI, 0.84-0.96); LOFA to interruption depth of 8 to 18 repeats (AUC = 0.97; 95% CI, 0.94-1), with AAO 15 to 34 years (AUC = 1; 95% CI, 1-1); and vLOFA to interruption depth > 18 (AUC = 0.97; 95% CI, 0.92-1), with AAO > 34 years. Multiple (>5) triplet interruptions hamper further expansion. CONCLUSION: This study provides the molecular basis for a novel classification of FRDA that should be recommended for correct diagnosis.

Humans↗

PubMed1978

The effect of suture depth on outflow facility in penetrating keratoplasty.

Outflow facility was measured in human eye bank eyes following penetrating keratoplasty (PKP) and cataract extraction. After measuring baseline outflow facility, a PKP and lens extraction was performed with the corneal button replaced by both interrupted "through-and-through" sutures and a conventional mid-to-deep stromal running suture. Outflow facility was unchanged from baseline with both sutures. However, following removal of through-and-through sutures outflow facility decreased 37%. This same suturing procedure was repeated in a second group of phakic eyes in which suture depth did not influence outflow facility.

Cataract Extraction↗

PubMed1977

A comparison of the continuous and interrupted suturing techniques.

This investigation compared the efficacy of interrupted and continuous suturing for primary closure of the apically positioned flap. Twenty-two flap procedures were performed on contralateral sites in 10 patients. The 11 sites where interrupted suturing was used had a degree of presurgical periodontal involvement which was similar to that in the 11 contralateral sites where continuous suturing was used. At postsurgical assessment visits, after 3 months and 6 months, gingival health status was evaluated for both groups. Recession, residual pocket depth and loss of attachment were also measured. Analysis of the data for each of these parameters indicated no statistically significant difference between the two groups. However, the overall clinical impression was that interrupted suturing provided better flap adaptation.

Adult↗

PubMed1977

Arterial hydrogen ion versus CO2 on depth and rate of breathing in decerebrate cats.

Arterial blood hydrogen ion concentration (Ha+) was altered over the range of 25 to 110 nM (pH 7.60 to 6.96) by slow intravenous infusion of 1.0 N NaHCO3 or 0.5 N HC1 at controlled levels of Paco2in unanesthetized decerebrate cats. Respiratory f varied as a single function of Vt irrespective of a lterations in Paco2 and Ha+ even after interruption of the carotid sinus nerves. The dependence of f upon Vt was abolished by vagotomy. However, Vt continued to respond to changes in Ha+ over its entire range after combined section of the vagus and carotid sinus nerves. In all statxceeded by 5 to 10 times the delta Vt/delta Ha+ response to acid or bicarbonate infused under isocapnic control. Increases and decreases of ha+ caused downward and upward shifts, respectively, in the operating setpoint of the CO2 regulation system.

Acidosis, Respiratory↗

PubMed1978

Vibration influence on control of single motor unit activity.

Effects of vibratory stimulation and maximal isometric contraction on a fine motor control task were evaluated in 17 human subjects. Electromyographic audiovisual feedback cues derived from two fine-wire bipolar electrodes, inserted to a depth of 12 and 6 mm respectively, were used to train the subjects to isolate a motor unit in the extensor carpi radialis brevis muscle. A specially designed compressed air driven vibrator providing vibratory stimulation with an amplitude of 2 mm and a frequency range of 120-160 cycles per second was applied to the muscle tendon. A significant decrease was found in the subjects; ability to isolate the pretest motor unit during and after continuous and interrupted periods of vibration and following a maximal isometric contraction of the extensor carpi radials brevis muscle. Individual variations in the subjects' responses to the forms of application of the vibratory stimulus, electrode preference and feedback specificity were observed. Results suggest that marked spatial recruitment of motor units, brought into action by the vibration stimulus or by the maximal isometric contraction, interfered with inhibitory mechanisms necessary to achieve isolation and control of a single motor unit. A therapeutic application of vibration, based on the marked spatial recruitment observed during and after vibration, is proposed for muscle reeducation.

Action Potentials↗

PubMed1979

[Anatomical and functional specialization of the cortex and the organization of gestures. An animal experimental contribution to the study of apraxia].

Apraxia has traditionally been considered the province of clinical investigation, but in recent years a series of animal studies have provided data that appear to be relevant to its interpretation. They are reviewed in the present paper with the aim to integrate and specify the classical model proposed by Liepmann, particularly as far as the roles of the inferior parietal lobe (area 40 in man and part of area 7 in the monkey) and of the motor association cortex (area 6 in man and periarcuate area in the monkey) are concerned. Monkey data suggest that the relation of the inferior parietal lobe to apraxia is not simply due to the interruption of the many sensory pathways that run in the subjacent white matter towards the frontal lobe, as implied by Liepmann's theorization, but rather to its being a center specialized in planning motor programs. Specifically, it would award the gesture with the spatial (directional) features needed to its proper execution. The periarcuate area, on the other hand, would participate in the organization of gesture, programming the temporal sequence of its component movements. It is in a favourable position to do this, because this receives information not only from the sensory association areas and the inferior parietal lobe, but also from the cortex of the depth and around the sulcus principalis, which is committed to keep record of the spatial characteristics of the stimulus as well as of the motor response. The implications of this dual system for the interpretation of apraxia in man are discussed.

Animals↗