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1.
J Binocul Vis Ocul Motil ; 71(3): 83-89, 2021.
Article in English | MEDLINE | ID: mdl-34097575

ABSTRACT

Purpose: To evaluate the effect of augmented inferior oblique recession (recession +5 mm loop) on the vertical deviation in primary position (PP) and the inferior oblique overaction (IOOA) in patients with unilateral congenital or acquired superior oblique palsy.Patients and methods: The medical records of patients who underwent unilateral inferior oblique recession with 5 mm loop during 2012 and 2019 were retrospectively reviewed. All patients had small to moderate manifest or intermittent hypertropia in PP and overaction of the inferior oblique muscle of +2 or +3 in lateral gaze. Patients who had combined inferior rectus surgery of the contralateral eye or who had previous vertical muscle surgery were excluded.Results: A total of 26 patients were included. Of these, three patients had combined horizontal muscle surgery. In 22 patients, the superior oblique palsy was congenital or longstanding, in 4 it was acquired and stable for more than 9 months. The mean preoperative vertical deviation in PP at distance and near was 14.7Δ and 11.2Δ, respectively. The mean postoperative vertical deviation was 5.7Δ and 4.1Δ after a mean follow-up of 19 months. The IOOA improved in all patients, 16 patients had an improvement of +2 and 10 patients had an improvement of +1.Conclusion: Inferior oblique recession with a 5 mm loop is a simple and quick technique to correct small to moderate hypertropia in primary position and inferior oblique overaction in contralateral gaze in patients with congenital, longstanding or acquired superior oblique palsy without risk of overcorrection.


Subject(s)
Strabismus , Trochlear Nerve Diseases , Humans , Oculomotor Muscles/surgery , Paralysis , Retrospective Studies , Strabismus/etiology , Strabismus/surgery , Trochlear Nerve Diseases/surgery
2.
Eur J Cancer ; 40(8): 1255-61, 2004 May.
Article in English | MEDLINE | ID: mdl-15110891

ABSTRACT

Although neuroblastoma is the most common extracranial solid tumour of childhood, little is known about its aetiology. Together with MYCN amplification and chromosome 17q gain, chromosome 1p deletion is one of the most frequently occurring genetic abnormalities in neuroblastoma. Based upon mapping of deletion breakpoints, putative tumour suppressor gene loci have been assigned to the distal part of the short arm of chromosome 1. Recently, the EXTL1 gene was suggested as a candidate neuroblastoma-suppressor gene and to evaluate this hypothesis, we performed 1p deletion analysis and mutation screening of the EXTL1-coding region on DNA from 22 primary neuroblastomas and 21 neuroblastoma cell lines. Deletions of the chromosome region 1p36.1, including the EXTL1 gene, were detected in several neuroblastoma cell lines and primary tumours. EXTL1 mutation screening resulted in the detection of one unclassified variant (Ser28Cys) but could not provide additional evidence of EXTL1 being involved in the aetiology of neuroblastoma.


Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 1/genetics , Mutation/genetics , N-Acetylglucosaminyltransferases/genetics , Neuroblastoma/genetics , Tumor Suppressor Proteins/genetics , Cell Line, Tumor , Humans , Polymorphism, Genetic
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