The knot in the noose is placed to the left of the condemned, so that at the end of the drop, the head is jolted sharply upwards and to the right. The force breaks the neck, causing an immediate loss of consciousness and death within a few minutes. Diagnosis
Physical examination
A medical history and physical examination can be sufficient in clearing the cervical spine. Notable clinical prediction rules to determine which patients need medical imaging are Canadian C-spine rule and the National Emergency X-Radiography Utilization Study (NEXUS). Choice of medical imaging
In children, a CT scan of the neck is indicated in more severe cases such as neurologic deficits, whereas X-ray is preferable in milder cases, by both US and UK guidelines. Swedish guidelines recommend CT rather than X-ray in all children over the age of 5. In adults, UK guidelines are largely similar as in children. US guidelines, on the other hand, recommend CT in all cases where medical imaging is indicated, and that X-ray is only acceptable where CT is not readily available. Radiographic detection
On CT scan or X-ray, a cervical fracture may be directly visualized.
A 2015 study used CRISPR/Cas9 to repair mutations in patient-derived induced pluripotent stem cells that cause X-linked retinitis pigmentosa. This study suggests that a patients own repaired cells could be used for therapy, reducing the risk of immune rejection and ethical issues that come with the use of embryonic stem cells. Research
History
Choroideremia was first described in 1872 by an Austrian ophthalmologist, Ludwig Mauthner. Initially, the condition was thought to be a developmental disorder which caused the absence of a majority of the choroid (hence the probable use of the ancient Greek suffix “eremia,” meaning barren land or desert). After several decades, the non-progressive nature of the disease was called into doubt, eventually being rejected by Paymerer et al. in 1960. The CHM gene was identified and cloned in 1990 by Frans P.M. Cremers. Basic research
In many inherited retinal diseases the protein affected by the mutation is directly involved in the light sensing function of the eye, however this is not the case in choroideremia. REP1 assists the prenylation of Rab G-proteins by binding and presenting them to the Rab geranylgeranyltransferase subunit. REP1 also escorts prenylated Rabs through the cytoplasm by binding the hydrophobic prenyl groups and carrying them to a specific destination membrane.In healthy individuals, REP1 is found throughout all of the cells of the body, however patients with choroideremia only experience vision loss, and not broader, systemic symptoms (with the exception of a study that found crystals and fatty acid abnormalities in leukocytes).