Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report.

INTRODUCTION: Diamond-Blackfan anemia and Duchenne muscular dystrophy are two rare congenital anomalies. Both anomalies occurring in the same child is extremely rare. Allogeneic hematopoietic stem cell transplantation is a well-established therapy for Diamond-Blackfan anemia. However, in patients with Duchenne muscular dystrophy, stem cell therapy still remains experimental. CASE PRESENTATION: We report the case of a nine-year-old boy of north Indian descent with Diamond-Blackfan anemia and Duchenne muscular dystrophy who underwent successful allogeneic hematopoietic stem cell transplantation. He is transfusion-independent, and his Duchenne muscular dystrophy has shown no clinical deterioration over the past 45 months. His creatine phosphokinase levels have significantly decreased to 300 U/L from 14,000 U/L pre-transplant. The patient is 100% donor chimera in the hematopoietic system, and his muscle tissue has shown 8% to 10.4% cells of donor origin. CONCLUSION: Our patient's Diamond-Blackfan anemia was cured by allogeneic hematopoietic stem cell transplantation. The interesting clinical observation of a possible benefit in Duchenne muscular dystrophy cannot be ruled out. However, further clinical follow-up with serial muscle biopsies and molecular studies are needed to establish this finding.

Is reduced CAG repeat length in androgen receptor gene associated with risk of prostate cancer in Indian population?

Shorter CAG repeats in androgen receptor (AR) gene have been found to be associated with an increased risk of prostate cancer (CaP). Ethnic variations in CAG repeat length may contribute to varying risks in different populations. To evaluate the prognostic significance of androgen receptor (AR) CAG repeats in Indian population for CaP, genomic DNA from 113 CaP, 57 benign prostate hyperplasia (BPH) patients and 133 normal healthy controls were examined by using a PCR-based GeneScan analysis. The mean number of CAG repeat in CaP was significantly lower as compared to the healthy controls (20.26 vs 22.98; p = 0.016). The odds ratio for CaP was 2.96 (p < 0.01), when individuals with short CAG repeat (< or =22) were compared with those having longer repeats (>22). A significant association was also observed between short CAG repeat and young age at diagnosis (OR 2.18; p = 0.04). The mean CAG repeat was not significantly different in BPH and healthy controls; however, BPH patients showed a tendency towards short CAG repeats. Thus, our results show that CAG repeat polymorphism in AR gene is significantly associated with CaP risk, suggesting that AR CAG polymorphism may act as a risk modifier to CaP in Indian population.