RESUMO
Description The childhood cerebral form of adrenoleukodystrophy (ALD) causes rapid demyelination of cerebral white matter and is clinically characterized by hyperactivity, emotional changes, and poor school performance, as well as progressive cognitive, visual, auditory, speech, and motor decline. While aggressive behavior is a known complication of ALD, treatment of the disease is limited. Moreover, behavioral management is not well described in the available literature, particularly from a psychiatric standpoint. In this case presentation, the patient's parents reported significant agitation and aggression, which may have been secondary to verbal deficits, in addition to the general neuropathological implications of this disease. Although this patient's previously prescribed pharmacotherapy was controlling most of his symptoms, the parents were understandably resistant to a treatment strategy that was so sedating. Therefore, modifications in the patient's original medical therapy were made, including a 50% decrease in his risperidone dosage. He was also referred to a behavioral therapist specializing in autism and speech therapy. He received Applied Behavior Analysis therapy, which was modified to teach a simplified method of communication using shapes identified by tactile sensation. At his 7-month follow-up, the parents reported noticeable improvement in the child's behavior and communication as well as fewer episodes of aggression. Quality of life is of the utmost importance for patients with such a limited life span. Medical care must be individualized for patients with ALD in ways that will enhance their quality of life, focusing on counseling, behavioral management, and interventions designed to address communication difficulties and strengthen social relationships.
RESUMO
Deoxyribonuclease II (DNase II) is also known as acid deoxyribonuclease because it has optimal activity at the low pH environment of lysosomes where it is typically found in higher eukaryotes. Interestingly, DNase II has also been identified in a few genera of bacteria and is believed to have arisen via horizontal transfer. Here, we demonstrate that recombinant Burkholderia thailandensis DNase II is highly active at low pH in the absence of divalent metal ions, similar to eukaryotic DNase II. The crystal structure of B. thailandensis DNase II shows a dimeric quaternary structure which appears capable of binding double-stranded DNA. Each monomer of B. thailandensis DNase II exhibits a similar overall fold as phospholipase D (PLD), phosphatidylserine synthase (PSS) and tyrosyl-DNA phosphodiesterase (TDP), and conserved catalytic residues imply a similar mechanism. The structural and biochemical data presented here provide insights into the atomic structure and catalytic mechanism of DNase II.
