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4 results on '"Sadeghi, André M."'

2. Long-term ophthalmic health care in Usher syndrome type I from an ICF perspective

Author

Möller, Kerstin, Eriksson, Kristina, Sadeghi, André M., Möller, Claes, Danermark, Berth, Möller, Kerstin, Eriksson, Kristina, Sadeghi, André M., Möller, Claes, and Danermark, Berth

Abstract

PURPOSE: The aim was to explore ophthalmic health care in female patients with Usher Syndrome type I (USH I) over 20 years and to evaluate the relationship between the ophthalmic health care and the health state of the patients from a health perspective. METHODS: A retrospective study of records from ophthalmology departments (OD) and low vision clinics (LVC) from 1985 to 2004. Assessment of the reports was performed based on the International Classification of Functioning, Disability and Health (ICF). Findings were analysed by manifest content analysis with ICF as a framework and using four themes: health care system, procedure examinations, patient's functioning and disability and procedure actions. RESULTS: The records of nine female patients (aged 25-39 years, 1985) with USH I were selected from the national database of USH. A great number of notes were collected (OD 344 and LVC 566). Procedure examinations were exclusively oriented towards body structure and function. All patients showed aggravated visual impairment over and above the hearing and vestibular impairment. Procedure actions were oriented towards environmental factors. No correlation was found between procedures performed and patient's experience of disability. CONCLUSIONS: The high degree of resource allocation was not correlated to the patients' impairment. The study indicates that the ophthalmic health care was characterised by inefficiency. This conclusion is very serious because patients very likely face severe disability and emotional difficulties. ICF is ought to be incorporated in ophthalmic health care strategy to improve the health care.

Published
2009
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4. Expressivity of hearing loss in cases with Usher syndrome type IIA.

Author

Sadeghi, André M., Cohn, Edward S., Kimberling, William J., Halvarsson, Glenn, and Möller, Claes

Subjects
*USHER'S syndrome, *COMPARATIVE studies, *STATISTICAL correlation, *GENES, *HEARING disorders, *RETINITIS pigmentosa, *T-test (Statistics), *PHENOTYPES, *DATA analysis software, *DIAGNOSIS
Abstract

Objective: The purpose of this study was to compare the genotype/phenotype relationship between siblings with identical USH2A pathologic mutations and the consequent audiologic phenotypes, in particular degree of hearing loss (HL). Decade audiograms were also compared among two groups of affected subjects with different mutations of USH2A. Design: DNA samples from patients with Usher syndrome type II were analysed. The audiological features of patients and affected siblings with USH2A mutations were also examined to identify genotype-phenotype correlations. Study sample: Genetic and audiometric examinations were performed in 18 subjects from nine families with Usher syndrome type IIA. Results: Three different USH2A mutations were identified in the affected subjects. Both similarities and differences of the auditory phenotype were seen in families with several affected siblings. A variable degree of hearing loss, ranging from mild to profound, was observed among affected subjects. No significant differences in hearing thresholds were found the group of affected subjects with different pathological mutations. Conclusions: Our results indicate that mutations in the USH2A gene and the resulting phenotype are probably modulated by other variables, such as modifying genes, epigenetics or environmental factors which may be of importance for better understanding the etiology of Usher syndrome. [ABSTRACT FROM AUTHOR]

Published
2013
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