FANCA Gene in Pakistani Fanconi Anemia Patients: Screening of Mutations in Exon 28 and Exon 29

Objective: This kind of study was conducted first time in Pakistan. Its objective was to ascertain the associated clinical features and analyze the FANCA exon 28 and exon 29 mutations in Pakistani Fanconi anemia (FA) patients. Methods: A total of 38 patients with Fanconi anemia were recruited presenting in the Armed forces institute of pathology (AFIP) Rawalpindi Pakistan. They were enrolled in this study on the basis of comprehensive clinical evaluation and positive Diepoxybutane (DEB)/Mitomycin C Chromosomal breakage test. Genomic DNA was extracted from peripheral blood of patients and age and gender-matched controls. Mutation analysis of FANCA gene was done by conventional Polymerase chain reaction (PCR) and DNA sequencing. Various online tools and software were used for analysis of the obtained data and identification of the sequence alterations in FANCA gene in exon 28 and exon 29 of FA patients. Results and Discussion: The current study on screening of FANCA mutational analysis in exon 28 and exon 29 revealed four novel mutations. These include three missense variants (p.F876L, p.L883H, and p.K921I) in exon 28 and a novel homozygous frameshift variant (p.S947FfsX950) in exon 29. In addition two new intronic variants were also found in this set of patients. Conclusion: The sequence variants identified in this study in 10 (26.31%) FA patients in two out of forty-three FANCA gene exons (i.e., exon 28 and exon 29) strongly emphasize the importance of large-scale molecular studies on FANCA gene in Pakistani population.

Suprascapular nerve block for the treatment of frozen shoulder

The aim of our study was to compare the effects of suprascapular nerve block in patients with frozen shoulder and diabetes mellitus unresponsive to intraarticular steroid injections. Ten patients without improvement of sign and symptoms after intraarticular injections were made a suprascapular nerve block. Pain levels and active range of movement of patients were recorded at initial attendance and after 1, 4, and 12 weeks. All patients' simple pain scores, total pain scores, and range of motion of their shoulders were improved significantly after suprascapular nerve block. In this study, the statistical analyses were performed by using the SPSS 8.0 program [SPSS Software, SPSS Inc., USA]. To compare pre- and post-injection results of simple pain score, total pain score, shoulder abduction and external rotation, Wilcoxon test was used. Patient's simple pain scores, total pain scores also abduction, external rotation and internal rotation angles were improved significantly after suprascapular nerve block. Effective results after suprascapular nerve blockage was obtained for the treatment of refractory frozen shoulder cases

The use of LASIK in the management of refractory anisometropic amblyopia in Sudanese adolescents / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To evaluate the visual outcome of LASIK and occlusion therapy for anisometropic amblyopia in adolescents and compare it to the visual outcome of optical correction and occlusion therapy.METHODS: This retrospective case-controlled study included 19 children,aged between 10 and 17 years,with anisometropic amblyopia. Group A included 10 adolescents with anisometropic amblyopia in whom vision did not improve with optical correction and occlusion therapy. These patients were then treated with LASIK and occlusion therapy. Postoperative visual outcomes of this group were analyzed and compared to group B which included 9 age-matched controls who were compliant to treatment of anisometropic amblyopia by optical correction and occlusion therapy.RESULTS: In group A,the mean (SD) spherical refraction was -8.9±5.2D preoperatively and -1.9±2.0D postoperatively,the mean (SD) preoperative best corrected visual acuity (BCVA) was 0.25±0.18,which improved to 0.50±0.26 after treatment. In group B,the mean (SD) pre-treatment BCVA was 0.27±0.18 and improved to 0.50±0.28 after treatment. There was no statistically significant difference between the two groups in terms of post-treatment BCVA.CONCLUSION: LASIK offers a feasible solution for adolescents with anisometropic amblyopia who are not improving in vision with conventional treatment optical correction and occlusion therapy. The outcome in this group was comparable to the outcome in adolescents in whom vision improved with conventional treatment.