Background: Duchenne Muscular Dystrophy (DMD) is a progressive, fatal neuromuscular disorder caused by mutations in the DMD gene. Emerging antisense oligomer based exon skipping therapy provides hope for the restoration of the reading frame. Objectives: Population-based DMD mutation database may enable exon skipping to be used for the benefit of patients. Hence, we planned this study to identify DMD gene variants in North Indian DMD cases. Methods: A total of 100 DMD cases were recruited and Multiplex ligation-dependent probe amplification (MLPA) analysis was performed to obtain the deletion and duplication profile. Results: Copy number variations (deletion/duplication) were found in 80.85% of unrelated DMD cases. Sixty-eight percent of cases were found to have variations in the distal hotspot region (Exon 45- 55) of the DMD gene. Exon 44/45 variations were found to be the most prominent among single exon variations, whereas exon 49/50 was found to be the most frequently mutated locations in single/ multiple exon variations. As per Leiden databases, 86.84% cases harboured out-of-frame mutations. Domain wise investigation revealed that 68% of mutations were localized in the region of spectrin repeats. Dp140 isoform was predicted to be absent in 62/76 (81.57%) cases. A total of 45/80 (56.25 %) and 23/80 (28.70%) DMD subjects were predicted to be amenable to exon 51 and exon 45 skipping trials, respectively. Conclusion: A major proportion of DMD subjects (80%) could be diagnosed by the MLPA technique. The data generated from our study may be beneficial for strengthening of mutation database in the North Indian population.
Introduction: Reconstruction of the anterior cruciate ligament (ACL) is a common procedure. Injury is the predisposing risk factor for developing heterotopic ossification(HO). We like to report a case of HO of the knee following arthroscopic ACL reconstruction. Case Report: A29-year-old patient was admitted with complaints of painful instability of the left knee after a fall from bike. MRI study con?rmed a complete ACL rupture along with tear of the body and posterior horns of the medial meniscus. ACL reconstruction was carried out using ipsilateral hamstring tendon graft by knee arthroscopy. Eight months after the procedure, the patient complained of pain in the lateral side of the knee joint evidencing a slight prominence of hard consistency. The radiological study confirmed it to be a case of HO. The patient was managed conservatively. Conclusion: Bone is the only tissue that has an incredible property as such that it can differentiate and develop into its mature form outside its native locations. Numerous studies have suggested ways of preventing and treating this complication. One has to be aware that even these simple surgical procedures can lead on to HO. Keywords: Heterotopic ossification in arthroscopy, unusual complication in arthroscopy, heterotopic ossification, knee arthroscopy complication.
The share of expenditure on medicines as part of the total out-of-pocket (OOP) expenditure on healthcare services has been reported to be much higher in India than in other countries. This study was conducted to ascertain the extent of this share of medicines expenditure using a novel methodology. OOP expenditure data were collected through exit-interviews with 5252 out-patient department (OPD) patients in three states of India. Follow-up interviews were conducted after day 1 and 15 of the baseline to identify any additional expenditure incurred. In addition, medicine prescription data were collected from the patients through prescription audits. Self-reported expenditure on medicines was compared with the amount imputed using local market prices based on prescription data. The results were also compared with the mean expenditure on medicines per spell of ailment among non-hospitalized cases from National Sample Survey (NSS) 75th round for the corresponding states and districts, which is based on household survey methodology. The share of medicines in OOP expenditure did not change significantly for organized private hospitals using patient-reported versus imputation-based method (30.74% to 29.61%). Large reductions were observed for single-doctor clinics, especially in case of Ayurvedic (64.51% to 36.51%) and Homeopathic (57.53% to 42.74%) practitioners. After adjustment for socio-demographic factors and types of ailments, we found that household data collection as per NSS methodology leads to an increase of 25% and 26% in reported share of medicines for public and private sector out-patient consultations respectively, as compared to facility based exit interviews with imputation of expenditure for medicines as per actual quantity and price data. The nature of health care transactions at single-doctor clinics in rural India leads to an over-reporting of expenditure on medicines by patients. While household surveys are valid to provide total expenditure, these are less likely to correctly estimate the share of medicines expenditure.
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