Diagnosing disorders associated with malfunctioning cellular structures.

Imagine that you are part of a research team that specializes in diagnosing disorders associated with malfunctioning cellular structures. Medical doctors consult your group to help diagnose particularly difficult cases. You have been presented with the following data:

Patient History:
o Seven year-old boy
o Fatigue
o Muscle weakness
o Low endurance
o Loss of coordination
o Progressive difficulty walkin

Physical Examination
o Muscle loss & deformity
o Awkward gait
o Difficulty breathing

Laboratory Results
o Cells have abnormal shape
o Cell division is abnormal
o Impaired intracellular movement of material.

Explain which structures may be involved. Use the patient history data to support your conclusions.

Sample Solution

In most centers, the procedure is approached using antegrade or transvenous method by creating an arteriovenous guide wire loop; which is the standard technique for transcatheter VSD device closure. Some studies have described that retrograde method and transarterial approach cannot be performed due to technical difficulties, mostly in adult patients. Recent studies of using variety of Amplatzer occluder devices had been successful with retrograde technique in adolescents and children with congenital VSD. Retrograde technique involves fewer steps and possesses the potential to significantly reduce fluoroscopy and total procedure time in comparison with the conventional methods. In a case series of Pekel et al. presented their experience of the transcatheter VSD closure using transarterial retrograde approach and concluded that it simplifies the procedure, decreases the radiation exposure, and shortens the procedure time.13 After a thorough literature search, no local study on transcatheter device closure of VSD comparing the two techniques was published.
Early in this institution, most patients with ventricular septal defect that undergo transcatheter technique still use the conventional method (transvenous antegrade approach). Only ten years ago, transcatheter closure using implantable devices has been introduced and is recently gaining popularity. When explaining the therapeutic options to the patients or the parents with VSD, outcome goals and complications or adverse events should be fully discussed. Since transcatheter device closure of VSD is an evolving technology, data on effectiveness, cost and mid-term outcome comparing these two technique

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