Gene/Protein Disease Symptom Drug Enzyme Compound
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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 40-year-old man underwent surgery for a right middle ear cholesteatoma. One month later, he presented with a subacute ocular pain that was followed one day later by the appearance of vertical diplopia attributable to a right superior rectus paresis, lid ptosis and hypoaesthesia in the territory of the I and the II right trigeminal branches. A fat-suppressed (selective partial inversion recovery, SPIR) gadolinium-enhanced MRI favours the detection of inflammatory pathological tissue inside the right cavernous sinus, and in this patient it suggested a diagnosis of Tolosa-Hunt syndrome. The pain disappeared quickly after steroid treatment was started whereas the ocular nerve involvement improved only slightly during the first week of treatment. After two months, the patient only complained of diplopia on up-gaze, but the therapy was discontinued two months later on the basis of both clinical signs and MRI findings. SPIR MRI may be useful not only to support a diagnosis of Tolosa-Hunt syndrome, but also to follow-up the disease course and to manage steroid treatment.
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PMID:SPIR MRI usefulness for steroid treatment management in Tolosa-Hunt syndrome. 1681 14

Cholesteatoma and cholesterol granuloma are relatively rare lesions of the orbit. Both may involve the superior orbit and present with globe ptosis, proptosis, and double vision developing over weeks to years. In addition to their etiology being unknown, the nomenclature regarding these tumors historically has been confusing, with a variety of names being used to describe them. Their histopathology shares numerous similarities but has one key distinguishing feature: The cholesterol granulomas lack an epithelial lining, whereas the cholesteatomas have an epithelial lining. Surgical removal is the treatment of choice for both tumors. It is important to differentiate the two as the prognosis with recurrence differs. Cholesteatoma may recur with the possibility of malignancy found at the time of re-exploration. We present a case of each tumor type, illustrating their similarities and highlighting the histopathologic findings and treatment recommendations.
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PMID:Orbital cholesterol granuloma and cholesteatoma: significance of differentiating the two. 1788 99

We present clinical and developmental data on a patient with a de novo recombinant pseudodicentric bisatellited chromosome 22 associated with a partial trisomy 22pter-22q12.1. The patient was evaluated at birth and followed-up until 21 years of age. Clinical findings include facial and digital dysmorphism, hydrocephalus and postnatal-onset growth deficiency. The patient showed bilateral microphthalmia with severe palpebral ptosis and coloboma of the iris and left optic nerve. She also has skeletal and neurological abnormalities, cholesteatoma and seizures. She had absence of speech, poor mobility, poor vision and required help with all daily living skills. Conventional chromosome GTG banded analysis showed that the proband had an abnormal karyotype:46,XX,add(22)(q13). Fluorescence in situ hybridization (FISH) analyses and microsatellite markers for DNA polymorphism study ascertained the karyotype as 46,XX,add(22)(q13.3).ish psu dic(22;22)(q13.3;q12.1)(D14Z1/D22Z1++, N25++, ARSA+, PCP22q+). The recombinant chromosome was stable and present in all cells examined. The paternal origin of the psu dic(22;22) chromosome was determined by using five highly polymorphic microsatellite markers located to the region of chromosome 22q11.2-22q13.33. A 22q13.3 monosomy was ruled out with 22q13.3 cosmid probes covering the terminal 22q-140Kb. The proband carried a recombinant pseudodicentric bisatellited chromosome psu dic(22;22)(q13.3;q12.1). To our knowledge, this is the first report of such rearrangement resulting in partial trisomy 22pter-22q12.1.
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PMID:A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations. 1831 57