Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum.

Objective: To study the clinical profile and mutation spectrum of Hunter syndrome. Methods: Evaluation of 18 cases of Hunter syndrome from 17 families was done. Mutation analysis of Iduronate sulfatase (IDS) gene was done in 9 families, and mothers of four affected children with no family history. Results: Joint contracture, hepatomegaly and radiological changes were present in all children. 6 (33%) children had normal cognitive function at presentation. Point mutations were identified in all the 9 families for whom mutation analysis was done. Among 4 mothers tested from families without any family history, 2 (50%) were found to be carriers. Conclusion: Accurate etiological diagnosis by mutation analysis of IDS gene is important in Hunter syndrome.

Unusual morphology of scapulae: incidence and dimensions of ossified ligaments and supraspinous bony tunnels for clinical consideration

<p><b>INTRODUCTION</b>Knowledge of morphological variations of the suprascapular region is important in the management of entrapment neuropathy and interventional procedures. The objective of this study was to collect data on the morphological features and dimensions of ossified ligaments and unusual bony tunnels of scapulae from a North Indian population.</p><p><b>METHODS</b>A total of 268 adult human scapulae of unknown gender were obtained from the bone bank of the Department of Anatomy, Dayanand Medical College and Hospital, Ludhiana, Punjab, India. The scapulae were evaluated for the incidence of ossified superior transverse scapular ligaments (STSLs), ossified inferior transverse scapular ligaments (ITSLs) and bony tunnels (i.e. the bony canal between the suprascapular notch and spinoglenoid notch), found along the course of the suprascapular nerve (SSN). The dimensions of these structures were measured and noted down. Ossified STSLs were classified based on their shape (i.e. fan- or band-shaped) and the dimensions of the ossified suprascapular openings (SSOs) were measured.</p><p><b>RESULTS</b>Ossified STSLs were present in 26 (9.7%) scapulae. Among the 26 scapulae, 16 (61.5%) were fan-shaped (mean area of SSO 16.6 mm(2)) and 10 (38.5%) were band-shaped (mean area of SSO 34.2 mm(2)). Bony tunnels were observed in 2 (0.75%) specimens, while an ossified ITSL was observed in 1 (0.37%) specimen.</p><p><b>CONCLUSION</b>The data obtained in the present study augments the reference literature for SSN decompression and the existing anatomical databases, especially those on Indian populations. This data is useful to clinicians, radiologists and orthopaedic surgeons.</p>

Anatomical study of the suprascapular notch: quantitative analysis and clinical considerations for suprascapular nerve entrapment

<p><b>INTRODUCTION</b>Detailed anatomical knowledge of the suprascapular notch (SSN) is important for the management of entrapment neuropathy and interventional procedures. The objective of the present study was to collect data on the morphological features and anatomical variations of the SSN in an Indian population.</p><p><b>METHODS</b>We studied 268 human scapulae of unknown sex (126 right-sided, 142 left-sided) taken from the Department of Anatomy, Dayanand Medical College and Hospital, India. SSNs were classified as either type I, II, III, IV or V, based on the shape of the inferior border of the incisura, and comparison of the SSN's vertical and transverse diameters. The shape of the SSN (i.e V- or U-shaped), if present, was also recorded.</p><p><b>RESULTS</b>Type II SSN was the most common (50.00%), followed by type I, type IV and type III (32.46%, 9.70% and 7.84%, respectively). For right-sided type II SSNs, the transverse and vertical diameters were 9.1 ± 3.2 mm and 5.2 ± 1.9 mm, respectively, while those for left-sided type ll SSNs were 9.2 ± 2.4 mm and 5.1 ± 1.8 mm, respectively. Generally, the transverse diameter of type II SSN was found to be greater than that of type III SSN. The incidence of U-shaped SSN was 51.49%, while that of V-shaped SSN was 2.99%.</p><p><b>CONCLUSION</b>This study of the morphometrical characteristics and anatomical variations of SSN provides an anatomical database of SSN in the Indian context. This database will be of use in surgical procedures, as the information can be used to ensure adequate access to and complete decompression of the suprascapular nerve.</p>

Rosmarinus officinalis essential oil: antiproliferative, antioxidant and antibacterial activities

The aim of this work was to investigate and compare the antiproliferative, antioxidant and antibacterial activities of Rosmarinus officinalis essential oil, native to Pakistan. The essential oil content from the leaves of R. officinalis was 0.93 g 100g-1. The GC and GC-MS analysis revealed that the major components determined in R. officinalis essential oil were 1,8-cineol (38.5 percent), camphor (17.1 percent), α-pinene (12.3 percent), limonene (6.23 percent), camphene (6.00 percent) and linalool (5.70 percent). The antiproliferative activity was tested against two cancer (MCF-7 and LNCaP) and one fibroblast cell line (NIH-3T3) using the MTT assay, while, the antioxidant activity was evaluated by the reduction of 2, 2-diphenyl-1-picryl hydrazyl (DPPH) and measuring percent inhibition of peroxidation in linoleic acid system. The disc diffusion and modified resazurin microtitre-plate assays were used to evaluate the inhibition zones (IZ) and minimum inhibitory concentration (MIC) of R. officinalis essential oil, respectively. It is concluded from the results that Rosmarinus officinalis essential oil exhibited antiproliferative, antioxidant and antibacterial activities.