Question

A 34-year-old Caucasian male report to the emergency room as a result of acute onset of nausea, vomiting, and the worst headache of his life. He stated that his headache as increased in severity over the past three days. B.P 88/48. On a pain scale of 1 to 10; his pain is a 10/10. He has a past medical history of hypertension, sleep apnea, dissection of the aorta, Weber and Rinne Test negative. On physical examination the physician noticed petechiae over his arms and neck. Range of motion examination demonstrated hyperflexion of all joints with random dislocation. During the physical examination the patient collapsed. Ocular examination and emergency CT was performed (view attached imaged).

What is this patient diagnosis?

What genetic disease does this patient have?

What is the most common pattern of inheritance for this patient genetic disease?

What protein is affected resulting from this patient genetic disease?

What will Weber’s and Rinne’s test detect? And how are they different?

Answer 1

1.patient diagnosis- cyclic vomiting syndrome

2.cyclic vomiting syndrome is often considered to be a variant of migraine,which are severe headaches often associated with pain,nausea,vomiting and extreme sensitivity to light and sound.
Many researcher believe that cyclic vomiting syndrome is a migraine like condition,which suggests that it is related to changes in signaling between nerve cells.(neurons) in certain areas of brain.

3.many individuals have a family history of related conditions,such as migraines,irritable bowel syndrome,or depression in their mothers and maternal relatives.
This family history suggests an inheritance pattern known as maternal inheritance or mitochondrial inheritance,which applies to genes contained in mtDNA.
Because egg cells,but not sperm cells,contribute mitochondria to the developing embryo,children can only inherit disorders resulting from mtDA mutations from their mother.

4.C-reactive protien is increased with repeated vomitings.

5. A Rinne test determines the hearing loss by comparison between air conduction and bone conduction. Air conduction hearing occurs through air near the ear, and it includes the ear auditory canal and eardrum.

Weber test determines the an issue due to the conductive or sensorineural hearing loss. Conductive hearing loss occurs when sound waves are not able to pass through the inner ear. Sensorineural hearing loss is caused by damage to auditory receptors, cochlear branch of vestibulocochlear nerve.

A Rinne test is performed by using tuning forks of 512-Hz. In this process the striking fork is placed behind the ear that is on the mastoid bone.

Weber test is also performed by using tuning forks of 512-Hz. In this process the striking fork is placed at middle of the head.