Pathogenic mutation in a patient with Oguchi disease / 中华眼底病杂志

Objective:To identify the pathogenic mutation in a patient with Oguchi disease.Methods:A Japanese patient with Oguchi disease was enrolled in this study, and underwent a comprehensive medical history assessment and multiple ophthalmic examinations, including BCVA, OCT, color fundus photography and full field electroretinogram. Genomic deoxyribonucleic acid (DNA) was extracted from peripheral blood samples for whole exome sequencing. The gene mutation was detected, and the analysis software was used to determine the conservation of the mutation and the possible structural changes.Results:The patient, 71 years old, with consanguineous parents, complained of night blindness since early childhood. BCVA in both eyes was 0.7 and the golden-yellowish reflex appeared in the grey retina. The scotopic 0.01 ERGs showed a extinguished reaction in both eyes. The scotopic 3.0 ERGs showed a "negative" configuration with a significantly reduced a wave and a nearly absent b wave. A homozygous deletion mutation in the SAG gene (c.924delA, p.N309Tfs*12) in this patient was founded by DNA sequencing, which was predicted to generate prematurely truncated SAG protein and result in severe structural change. Homology analysis of the protein sequence indicated that the mutation resulted in an altered amino acid which was evolutionarily highly conserved among different species, strongly suggesting the potential pathogenicity of this homozygous mutation.Conclusion:The mutation c.924delA(309Tfs*12) in SAG cause Oguchi disease in this patient.

Factors of Families Related to Outcome of Rehabilitation for Cerebral Palsy Children / 中国康复理论与实践

Objective To investigate the factors of families related to the outcome of rehabilitation for cerebral palsy children. Methods Families of 153 cerebral palsy children were investigated with questionnaires of family condition, knowledge of cerebral palsy, compliance, and the Eysenck Personality Questionnaire, Marital Quality Questionnaire, Social Support Scale, Symptom Check List, Happiness Index. The children were assessed with Comprehensive Assessment for Disable Children before and after rehabilitation. Results There were signifi-cant differences of compliance, knowledge of cerebral palsy, being of other healthy children, personality of extraversion/introversion and ly-ing, and mental symptom between the families of the cerebral palsy children improved or not after rehabilitation (P<0.05). Multivariate Lo-gistic regression analysis showed that, being of other healthy children, personality of extraversion/introversion and mental symptom were the independent factors. Conclusion It may relate to the outcome of rehabilitation for cerebral palsy children of family condition, personali-ty and mental health of the families, which need further intervention.