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In MCTD, major histocompatibility complex (MHC) and non-MHC genes have been linked to disease vulnerability. [10] HLA-DR4 in the MHC is linked to both anti-RNP antibody responses and MCTD. [ 52 ] [ 53 ] The HLA class II phenotype/genotype most closely connected with scleroderma , HLA-DR5 , and its subgroups, has been demonstrated to have a ...
A conductive hearing loss along with middle ear disease is most commonly seen in patients with Pfeiffer syndrome; although, there have been reports of mixed hearing loss as well. The hearing loss is most typically caused by stenosis or atresia of the auditory canal, middle ear hypoplasia and ossicular hypoplasia (Vallino-Napoli, 1996).
Connective tissue diseases can be classified into two groups: (1) a group of relatively rare genetic disorders affecting the primary structure of connective tissue; and (2) a number of acquired conditions where the connective tissues are the site of multiple, more or less distinct immune and inflammatory reactions.
Autoimmune inner ear disease (AIED) was first defined by Dr. Brian McCabe in a landmark paper describing an autoimmune loss of hearing. [2] The disease results in progressive sensorineural hearing loss (SNHL) that acts bilaterally and asymmetrically, and sometimes affects an individual's vestibular system.
Conductive hearing loss (CHL) occurs when there is a problem transferring sound waves anywhere along the pathway through the outer ear, tympanic membrane (eardrum), or middle ear . If a conductive hearing loss occurs in conjunction with a sensorineural hearing loss, it is referred to as a mixed hearing loss.
Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear, sensory organ (cochlea and associated structures), or the vestibulocochlear nerve (cranial nerve VIII). SNHL accounts for about 90% of reported hearing loss.
Marshall syndrome is a genetic disorder of the connective tissue [2] that can cause hearing loss. The three most common areas to be affected are the eyes, which are uncommonly large, joints and the mouth and facial structures. Marshall syndrome and Stickler syndrome closely resemble each other; in fact they are so similar, some say they are the ...
Whilst hearing loss is a common symptom in many diseases of the ear, for example in otosclerosis (abnormal bone growth in the ear), [3] the white, chalky patches on the tympanic membrane are fairly characteristic of tympanosclerosis. Cholesteatoma is similar in appearance but the whiteness is behind the tympanic membrane, rather than inside.
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