A study in 268 MS patients and 155 controls reported more a frequency of CCSVI in the MS group that was more than twice as high as in the controls group and was also higher in the progressive MS group than in the non-progressive MS group. This study found no relationship between CCSVI and HLA DRB1*1501, a genetic variation that has been consistently linked to MS. Diagnosis
CCSVI was first described using specialized extracranial and transcranial doppler sonography. Five ultrasound criteria of venous drainage have been proposed to be characteristic of the syndrome, although two are considered sufficient for diagnosis of CCSVI:
reflux in the internal jugular and vertebral veins,
reflux in the deep cerebral veins,
high-resolution B-mode ultrasound evidence of stenosis of the internal jugular vein,
absence of flow in the internal jugular or vertebral veins on Doppler ultrasound, and
reverted postural control of the main cerebral venous outflow pathways.It is still not clear whether magnetic resonance venography, venous angiography, or Doppler sonography should be considered the gold standard for the diagnosis of CCSVI. Use of magnetic resonance venography for the diagnosis of CCSVI in MS patients has been proposed by some to have limited value, and should be used only in combination with other techniques. Others have stated that magnetic resonance venography is a valid measure which has advantages over Doppler including the fact that results are more operator-independent.Diagnostic criteria have been criticized. Both the number of criteria and the need of being positive for two of them as enough for diagnosis are arbitrary ideas.
Many affected individuals were found in Lagos, an industrial area of Nigeria, where water supplies are known to be contaminated by improper disposal of industrial and domestic waste. Complete lateral facial cleft
The facial cleft runs from the corner of the mouth towards the bottom of the ear. The outside of the ear on the affected side of the face appears as normal and a region of soft tissue connects the cleft to the right lateral posterior hard palate. Internally there is no soft palate. Simple macrostomia
This version of macrostomia is less severe because it does not affect the facial muscles and is not associated with any soft tissue or bone deformities. A small cleft(s) extends from the mouth and can be repaired surgically. Diastasis of the facial musculature
Clefts in this variant are slightly more severe than the ones seen in simple macrostomia. It also does not have bone deformities, but it does include minor soft tissue deformities. The defining feature is muscle diastasis which is separation of the masseter. This phenotype can also be partially corrected with surgery. Isolated facial musculature diastasis
The facial cleft in this case results in a more severe muscle separation even though there is not a true open cleft. Bones in the region remain unaffected and the phenotype appears as an indentation of the cheek rather than an open cleft. The external ear in this phenotype can also be deformed. Mechanism
Likely due to the complexity of macrostomia, many theories have been provided over time in an attempt to define its origin.