Molecular Functions of MECP2 in Rett Syndrome Pathology
As reviewed by Sharifi and Yasui, MECP2 protein, encoded by the MECP2 gene binds to DNA with a high affinity for CpG methylated DNA sites and affects transcription. MECP2 can bind to 5mc (5-methylcytosine) and 5hmc (5-hydroxymethylcytosine) with similar affinity, and these dinucleotides account for the majority of MECP2 binding sites in the mammalian genome. MECP2 is involved in higher order chromatin organization and appears necessary for compacting chromosomes. MECP2 binding to DNA influences mRNA splicing events. MECP2 also appears to function in DNA repair processes. MECP2-/+ deficient female mice have elevated rates of cell death when exposed to DNA damaging agents and are prone to early senescence. Interactive pathway map
An interactive pathway map of Rett syndrome has been published. Diagnosis
Prior to the discovery of a genetic cause, Rett syndrome had been designated as a pervasive developmental disorder by the Diagnostic and Statistical Manual of Mental Disorders (DSM), together with the autism spectrum disorders. Some argued against this conclusive assignment because RTT resembles non-autistic disorders such as fragile X syndrome, tuberous sclerosis, or Down syndrome that also exhibit autistic features. After research proved the molecular mechanism, in 2013 the DSM-5 removed the syndrome altogether from classification as a mental disorder.Rett syndrome diagnosis involves close observation of the childs growth and development to observe any abnormalities in regards to developmental milestones. A diagnosis is considered when decreased head growth is observed.
Instead it concluded that "The paucity of evidence related to early versus delayed surgery is of particular concern, as patients and providers must decide whether to attempt initial nonoperative management or proceed immediately with surgical repair". In terms of operative techniques, differences in neither cuff integrity nor shoulder function were reported in studies comparing single-row versus double-row suture anchor fixation and mattress locking versus absorbable sutures. Postoperatively, a slight advantage was evident in patients who performed continuous passive motion alongside physical therapy, as opposed to those who solely performed physical therapy. There is insufficient evidence to adequately compare the effects of operative against nonoperative interventions. Complications were reported very seldom, or were not determined to be clinically significant.A 2016 study evaluating the effectiveness of arthroscopic treatment of rotator cuff calcification firmly supported surgical intervention. Calcification of the supraspinatus tendon is a major contributor to shoulder pain in the general population and is often worsened following a supraspinatus tear. The results of the study included the return to sports and original functionality of 95.8% of the patients after a mean of 5.3 post-operative months. A significant decrease in pain was observed over time following removal of the calcification. The study showed the overall effectiveness of arthroscopic procedures on shoulder repair, and the lack of risk experienced. Before surgery, supraspinatus tendonitis should be ruled out as the cause of pain. Additional images
References
External links

GoogleBody - Supraspinatus muscle