Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344329 (collapse)
 28,634 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Of 41 patients with Duchenne muscular dystrophy, no ambulatory patient had scoliosis greater than 19 degrees. Non-ambulatory patients were prophylactically placed in body jackets, which kept the spine flexible and provided adequate support for sitting in the majority of patients. Ten patients had posterior spine fusion for progressive spinal collapse. The procedure was extensive with significant blood loss but boney fusion was achieved in every case. Pulmonary complications were minimized by performing preoperative tracheostomy on all patients who had vital capacities less than 40% and or non-functional coughs. Spinal fusion permitted long-term sitting stability despite the progression of the disease.
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PMID:Stabilization of the collapsing spine in duchenne muscular dystrophy. 34 97

We reviewed the clinical charts and spinal radiographs of fifty-one boys who had Duchenne muscular dystrophy, had not had surgical treatment of the spine, and had been followed until death. All had scoliosis. None of the following variables was useful in predicting which curves would become severe: age when the patient initially walked, age when he ceased walking, age at onset of spinal collapse, surgical release of the iliotibial bands, or age at the time of death. Radiographs were made within eighteen months before death for thirty-three patients; in thirty-one of them, the final curve exceeded 40 degrees and in seventeen, 90 degrees. For the remaining eighteen patients, final radiographs were made more than eighteen months before death; at that time, eight of them already had a curve of more than 90 degrees. Although there was a relationship between extension of the lumbar spine and severity of scoliosis at the time of final follow-up, early maintenance of the lumbar spine in extension rarely prevented the development of a severe curve. For most of the patients who had a severe curve, sitting was difficult and was accompanied by breakdown of the skin and pain. When a patient's curve exceeded 35 degrees, the vital capacity usually was less than 40 per cent of the predicted normal value. Therefore, when walking becomes impossible for boys who have Duchenne muscular dystrophy, routine spinal arthrodesis should be considered.
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PMID:Progression of scoliosis in Duchenne muscular dystrophy. 276 82

A case history is presented of a three-year-old boy with unsuspected Duchenne muscular dystrophy, who suffered a cardiac arrest following the administration of a single dose of succinylcholine during a halothane anaesthetic. The arrest was associated with lack of fasciculations, muscle rigidity, hyperkalemia, myoglobinuria, and massive elevation of serum creatine phosphokinase. Asystole was prolonged and refractory to treatment, although cardiac activity was eventually restored. The possible cause of the circulatory collapse is discussed and reports of similar cases reviewed. Neither succinylcholine nor halothane should be employed in cases with known or suspected Duchenne muscular dystrophy.
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PMID:Succinylcholine-induced cardiac arrest in unsuspected Duchenne muscular dystrophy. 674 92

The oxygen insertion into C-H bonds (of methane, isobutane, and acetone) by dioxiranes (parent dioxirane and dimethyldioxirane) to give alcohols was studied with the DFT theory, using both restricted and unrestricted B3LYP methods, and 6-31G(d) and 6-311+G(d,p) basis sets to evaluate the feasibility of stepwise mechanisms and their competition with the concerted counterpart. Confirming previous results by other authors, we have located, with the RB3LYP method, concerted TSs in which the oxygen bound to be inserted interacts very strongly with the hydrogen atom and very weakly with the carbon atom of the C-H bond. These TSs nicely explain all the experimental observations (e.g., configuration retention at the chiral centers), but all of them exhibit an RHF --> UHF wave function instability that preclude considering them as genuine transition structures. We also were able to characterize, with UB3LYP methods, two alternative two-step processes that can lead to final products (alcohol + carbonyl compound) via singlet radical pair intermediates. For the first step of both processes we located genuine diradicaloid TSs, namely, TSs rad,coll and TSs rad,perp, that have stable wave functions. In TSs rad,coll the alkane C-H bond tends to be collinear with the breaking O(1)- - -O(2) bond while in TSs rad,perp the alkane C-H bond is almost perpendicular to the O(1)- - -O(2) bond. The first step, of both processes, can represent an example of a "molecule induced homolysis" reaction: collision between alkane and dioxirane brings about the homolytic cleavage of the dioxirane O-O bond and the hydrogen abstraction follows afterward to produce the diradicaloid TS that then falls down to a singlet radical pair. This hypothesis was fully confirmed by IRC analysis in the case of TSs rad,coll. The possible pathways that lead from the intermediate radical pair to final products are discussed as well as the hypothesis that the radical collinear TSs may collapse directly to products in a "one-step nonconcerted" process. However, diradical mechanisms cannot explain the experimental data as satisfactorily as the concerted pathway does. As for computational predictions about competition of diradical vs concerted mechanisms, they strongly depend (i) on the alkane C-H type, (ii) on whether gas phase or solution is considered, and (iii) on the basis set used for calculations. In short, the concerted TS benefits, with respect to the corresponding diradicaloid TSs, of alkyl substitution at the C-H center, solvation effects, and basis set extension. Actually, in the case of DMD reactions with methane and acetone, the diradicaloid TSs are always (both in gas phase and in solution and with both the basis sets used) strongly favored over their concerted counterpart. In the case of DMD reaction with isobutane tertiary C-H bond the large favor for the diradicaloid TSs over the concerted TS, predicted in gas phase by the B3LYP/6-31G(d) method, progressively decreases as a result of basis set extension and introduction of solvent effects: the higher theory level [B3LYP/6-311+G(d,p)] suggests that in acetone solution TS conc has almost the same energy as TS rad,perp while TS rad,coll resides only 2 kcal/mol higher.
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PMID:Novel pathways for oxygen insertion into unactivated C-H bonds by dioxiranes. Transition structures for stepwise routes via radical pairs and comparison with the concerted pathway. 1255 3

The authors believe that with fascioscapulohumeral muscular dystrophy (FSHD), like Duchenne muscular dystrophy, there is Ca2+ dysregulation in the muscle cells. The dysregulated Ca2+ can cause cell death in various ways. One mechanism may be Ca2+ triggering abnormal levels of tumor necrosis factor (TNF-alpha). Another mechanism may involve excessive Ca2+ levels within the mitochondria which would cause this organelle's membrane to collapse ultimately inducing apoptosis and/or necrosis. With this in mind, it has been reported that in FSHD there is over expression of adenine nucleotide translocator-1 (ANT-1). This Ca2+ dependent protein, which is a component of the mitochondrial permeability transition pore, could be an important culprit in mitochondrial membrane collapse. Therefore, dysregulated Ca2+ as well as TNF-alpha, in addition to over-expression of ANT-1, may result in cell disruption ultimately causing the characteristic dystrophic muscle wasting. The present investigators have noted that some individuals with FSHD benefit from a regimen of diltiazem, a Ca2+ channel blocker. Initial results using diltiazem may represent the first beneficial treatment for a form of muscular dystrophy. Even if there is only a slowing of progression, this would be a positive first step. A combination of several different Ca2+ regulating agents and TNF-alpha inhibitors may be necessary to truly alter and/or reverse the deleterious effects of this form of muscular dystrophy.
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PMID:Fascioscapulohumeral muscular dystrophy: a progressive degenerative disease that responds to diltiazem. 1596 57

Patients with Duchenne muscular dystrophy (DMD) are likely to suffer from cardiac insufficiency. Subclinical cardiac insufficiency may decompensate intraoperatively. During spinal surgery, recording of somatosensory evoked potentials (SSEP) is the standard method of spinal cord monitoring. Assessment of SSEP has proven to be a highly prognostic measure of neurological outcome after cardiopulmonary resuscitation (CPR). In the case presented, scalp SSEP as response to stimulation of both median and tibial nerves were recorded during spinal surgery in a 15-year-old boy with DMD. The patient developed severe hypotension and circulatory collapse intraoperatively. SSEP were measured before, during and up to 3h after circulatory collapse. He was successfully resuscitated and fully recovered. Latencies of SSEP remained stable from all extremities whereas amplitudes significantly decreased during CPR, but recovered completely within 3h. The amplitudes of SSEP serve as a more sensitive marker for brain ischaemia than latencies. Stability of latencies and full recovery of amplitudes within 3h indicated sufficient CPR and predicted a good neurological recovery.
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PMID:Assessment of somatosensory evoked potentials during resuscitation of a 15-year-old boy with Duchenne muscular dystrophy. 1659 83

Abdominal compartment syndrome (ACS) is a life-threatening entity that requires rapid recognition and treatment. This case report represents the first case report of ACS associated with the correction of a marked scoliosis. Of the many possible causes for respiratory compromise and cardiovascular collapse associated with major spine surgery, ACS should be considered, particularly in instances of profound spinal curvature correction. We present the case of an 8-year-old child with Duchenne muscular dystrophy (DMD) undergoing correction of a severe scoliotic curvature. Near the end of an otherwise unremarkable surgery, he developed severe respiratory compromise associated with respiratory acidosis, hypoxia, and hypotension in the face of a catastrophic decrease in lung compliance. After supine positioning and examination, he was discovered to have ACS, which was treated with laparotomy. Complete recovery occurred after 5 days. This case report should raise awareness of a rare, life threatening, but imminently treatable entity that can accompany scoliosis surgery. The description of this case should be particularly important for pediatric anesthesiologists and orthopedic surgeons who care for patients undergoing correction of marked scoliosis. We suggest possible mechanisms for the development of ACS in this setting that offer insights into the pathology of this entity, which could be useful in many other clinical situations where visceral venous drainage or bowel perfusion may be compromised.
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PMID:Case presentation: abdominal compartment syndrome complicating posterior spinal fusion. 2221 28