Early damage is most evident in the subcortical basal ganglia, initially in the striatum, but as the disease progresses, other areas of the brain are also affected, including regions of the cerebral cortex. Early symptoms are attributable to functions of the striatum and its cortical connections—namely control over movement, mood, and higher cognitive function. DNA methylation also appears to be changed in HD. Huntingtin function
Htt is expressed in all cells, with the highest concentrations found in the brain and testes, and moderate amounts in the liver, heart, and lungs. Its functions are unclear, but it does interact with proteins involved in transcription, cell signaling, and intracellular transporting. In animals genetically modified to exhibit HD, several functions of Htt have been identified. In these animals, Htt is important for embryonic development, as its absence is related to embryonic death. Caspase, an enzyme which plays a role in catalyzing apoptosis, is thought to be activated by the mutated gene through damaging the ubiquitin-protease system. It also acts as an antiapoptotic agent preventing programmed cell death and controls the production of brain-derived neurotrophic factor, a protein that protects neurons and regulates their creation during neurogenesis. Htt also facilitates synaptic vesicular transport and synaptic transmission, and controls neuronal gene transcription. If the expression of Htt is increased, brain cell survival is improved and the effects of mHtt are reduced, whereas when the expression of Htt is reduced, the resulting characteristics are more as seen in the presence of mHtt.
When there is minimal obstruction, it is often possible to visualize the nasopharynx.Identifying the Nasal Septal Hematoma
If lateral bulging of the septum and fluctuance persist after the nasal administration of a vasoconstrictive agent, such as oxymetazoline, it is a strong indicator of a nasal septal hematoma. A septal hematoma is highly likely in patients who have had trauma or a sudden onset of nasal blockage that does not resolve with the removal of blood clots and the administration of a vasoconstrictive agent.Diagnosis can be made by a medical professional after performing an anterior rhinoscopy examination, by using an otoscope or a nasal speculum and overhead light source.Sometimes palpitation is used to diagnose the hematoma. Treatment
A septal hematoma requires urgent treatment from a doctor in order to stop any further complications arising.Prompt treatment of septal hematomas can prevent complications such as ischemia of the septal cartilage, which can lead to permanent necrosis and a saddle-nose deformity. Such complication can occur rapidly, within as few as 3 days.There are two different procedures used to achieve this and will be selected upon the size of the swelling or clot. If the condition is being treated promptly and is still relatively small, then a small incision can be made to allow the blood to flow out. If the septal hematoma has been left untreated, then a doctor may need to insert a mechanism in order to fully remove the blood from the area.If left untreated, the hematoma can cause bacterial colonization that leads to infection.