Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

​Multicentric osteolysis nodulosis and arthropathy (MONA) is an infrequently described autosomal recessive skeletal dysplasia characterized by progressive osteolysis and arthropathy. Inactivating mutations in MMP2, encoding matrix metalloproteinase‐2, are known to cause this disorder. Fifteen families with mutations in MMP2 have been reported in literature. In this study we screened thirteen individuals from eleven families for MMP2 mutations and identified eight mutations (five novel and three known variants). We characterize the clinical, radiographic and molecular findings in all individuals with molecularly proven MONA from the present cohort and previous reports, and provide a comprehensive review of the MMP2 related disorders. © 2015 Wiley Periodicals, Inc.

     

Comparison of Elective Minimally Invasive with Conventional Surgical Tracheostomy in Adults

Minimally invasive techniques were used for tracheostomy including small horizontal skin incision, limited soft tissue dissection and no suturing. A Retrospective analysis of case sheets of patients who underwent elective tracheostomy by the first and second authors at M S Ramaiah Hospitals in Bangalore between 1st May 2010 and 1st May 2015 was done to compare the result of elective conventional open surgical tracheostomy using midline vertical skin incision with minimally invasive tracheostomy using a short horizontal incision. No statistically significant difference in the peri and post operative complication rate was found. The patterns of intra and post operative complications reflected the choice of the surgical technique—the conventional technique had problems associated with wide dissection, whereas the minimally invasive technique had problems associated with limited exposure. Problems of wound gaping, emphysema and peristomal inflammation were reduced with minimally invasive technique with short horizontal skin incision although statistical difference could not be shown. There was also no statistically significant difference with either technique regards death and decannulation rates. Minimally invasive technique of elective open surgical tracheostomy was found to be as safe as conventional open surgical tracheostomy with midline vertical skin incision in the studied groups.     

Comparison between surrogate indexes of insulin sensitivity/resistance and hyperinsulinemic euglycemic glucose clamps in rhesus monkeys

The euglycemic glucose clamp is the reference method for assessing insulin sensitivity in humans and animals. However, clamps are ill-suited for large studies because of extensive requirements for cost, time, labor, and technical expertise. Simple surrogate indexes of insulin sensitivity/resistance including quantitative insulin-sensitivity check index (QUICKI) and homeostasis model assessment (HOMA) have been developed and validated in humans. However, validation studies of QUICKI and HOMA in both rats and mice suggest that differences in metabolic physiology between rodents and humans limit their value in rodents. Rhesus monkeys are a species more similar to humans than rodents. Therefore, in the present study, we evaluated data from 199 glucose clamp studies obtained from a large cohort of 86 monkeys with a broad range of insulin sensitivity. Data were used to evaluate simple surrogate indexes of insulin sensitivity/resistance (QUICKI, HOMA, Log HOMA, 1/HOMA, and 1/Fasting insulin) with respect to linear regression, predictive accuracy using a calibration model, and diagnostic performance using receiver operating characteristic. Most surrogates had modest linear correlations with SI(Clamp) (r ≈ 0.4-0.64) with comparable correlation coefficients. Predictive accuracy determined by calibration model analysis demonstrated better predictive accuracy of QUICKI than HOMA and Log HOMA. Receiver operating characteristic analysis showed equivalent sensitivity and specificity of most surrogate indexes to detect insulin resistance. Thus, unlike in rodents but similar to humans, surrogate indexes of insulin sensitivity/resistance including QUICKI and log HOMA may be reasonable to use in large studies of rhesus monkeys where it may be impractical to conduct glucose clamp studies.     

5-Fluoro-Uracil and Low Molecular Weight Heparin in the Management of Proliferative Vitreo-retinopathy

Background

Proliferative vitreo-retinopathy (PVR) is the most common cause of failed repair of a primary rhegmatogenous retinal detachment (RRD). The success rates for the surgery of complicated RRD has doubled with improved vitreous techniques from 35–40% to approximately 65–75% at six months. However, despite these advances, recurrent vitreo-retinal traction leads to re-detachment in more than one-fourths of the initially successful cases. The use of adjunctive treatments to prevent cellular proliferation holds promise for the prevention of PVR or recurrences after surgery. One focus has been on the use of intra-vitreal antimetabolites to prevent the occurrence of PVR.

Methods

Thirty patients of complicated retinal detachment associated with PVR, C1 or more were managed by vitreo-retinal (VR) surgery with the addition of 250 μg / ml of 5-fluorouracil (5FU) and 1 IU / ml of low molecular weight heparin (LMWH) to the vitreous infusion. The patients were examined for any evidence of PVR till 180 days as also for any systemic or other ophthalmic complication.

Result

Out of the 30 cases in the study group, 25 (83.34%) cases had retinal settlement at the end of six weeks, which is similar to the outcomes of conventional VR surgery. There was no case of any serious complication.

Conclusion

The addition of LMWH and 5FU did not enhance the outcome of VR surgery.Key Words: Proliferative vitreo-retinopathy, Rhegmatogenons retinal detachment, 5-fluorouracil, Low molecular weight heparin