Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Eleven patients diagnosed as having muscular dystrophy and who underwent posterior spinal fusion were reviewed: Becker dystrophy in one, limb girdle in two, facioscapulohumeral in one, myopathia unspecified in one, myotonia dystrophica in two, myotonia congenita in one, and hypotonia congenita in three. There were eight females and three males. The curve pattern was thoracic in four, thoracolumbar in three, double thoracic and thoracolumbar in three, and thoracolumbar lordosis in one. Scoliosis was associated with kyphosis in two, with lumbar lordosis in one, and thoracic lordosis in four patients associated with poor vital capacity and shortness of breath. Seven patients had nonoperative treatment, five showing increase of the curve, and two having control of the curve. All patients had posterior spinal fusion with instrumentation with a follow-up of 9-89 months (average, 41 months). Postoperative support was used in all but one. Major complications occurred in four patients: a symptom of vascular obstruction of the duodenum in two, extubation delayed until the 7th day postoperatively in one and pseudarthrosis in one resulting in an increasing curve and refusion. One patient (limb girdle), 6 years after surgery at 21 years died from cardiomyopathy. The second (limb girdle) lost ambulation at age 22 years, 6.6 years after spinal surgery. In conclusion, patients with muscular dystrophies other than Duchenne generally have slowly evolving curves, and the use of an orthosis in the juvenile years controlled the curve until the pubertal growth spurt, when progression occurred. Surgical treatment was successful in stabilizing the deformities.
 ...
PMID:Spinal deformities in patients with muscular dystrophy other than Duchenne. A review of 11 patients having surgical treatment. 407 Dec 69

Tension pneumocephalus is a rare condition that can be a life-threatening neurosurgical emergency. It usually results from head trauma, but there have been case reports of iatrogenic causes including on non-invasive mechanical ventilation. We report a case of pneumocephalus resulting from high mechanical ventilation pressures in a patient without prior head trauma. A 37-year-old male with Duchenne's muscular dystrophy who had been ventilator-dependent through tracheostomy was admitted for shortness of breath and intermittent fevers. The patient was found to have pneumonia, with left-lower lobe consolidation, and was started on linezolid given known Methicillin-resistant Staphylococcus aureus from previous sputum culture; he was later switched to vancomycin and piperacillin-tazobactam given persistent fevers to cover for hospital-acquired pneumonia. The patient went into septic shock requiring multiple pressors as well as stress steroids for persistent shock, with eventual improvement in hemodynamics. He developed further respiratory acidosis on his usual ventilator settings, and peak inspiratory pressures (PIPs) progressively increased to as high as 45-70 cm H2O during his hospital course. PIPs did not improve with suctioning or after bronchoscopy. On the 17th day of the patient's stay, he had acutely altered mental status with non-reactive fixed and dilated pupils and disconjugate gaze of the right eye on neurologic examination. CT of the head at that time revealed extensive pneumocephalus along the bifrontal convexities, suprasellar cisterns, and posterior fossa, with a possible fracture of the frontal skull base near the ethmoid roof. Mount Fuji sign was present on CT scan, indicative of "tension pneumocephalus". Neurosurgical consultation was obtained but the family declined intervention given his overall debilitated stated. Comfort measures were instituted, and the patient expired the following day. Pneumocephalus is the accumulation of air entry into the cranial cavity, generally from head trauma, inflammation, or surgery. Patients may have underlying base skull defects or microfractures that permit air to enter the intracranial cavity. Increased sphenoid sinus pressure from mechanical ventilation may enter the subperiosteal space, allowing air to enter the intracranial cavity. It is important to consider pneumocephalus in a patient with new neurological findings after mechanical ventilation.
 ...
PMID:Tension Pneumocephalus in a Tracheostomized, Chronically Ventilated, Duchenne's Muscular Dystrophy Patient Without Prior Head Trauma. 3306 10