Nonsyndromic X‐linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]

X‐linked intellectual deficiency (XLID) is a large group of genetic disorders. MED12 gene causes syndromic and nonsyndromic forms of XLID. Only seven pathological mutations have been identified in this gene. Here, we report a novel mutation segregating with XLID phenotype. This mutation could be in favor of genotype–phenotype correlations.     

Cement pulmonary embolism after percutaneous vertebroplasty and kyphoplasty: An overview

BACKGROUND: Because of the aging of the American population, osteoporotic vertebral fractures are becoming a common problem in the elderly. Minimally invasive percutaneous vertebral augmentation techniques have gained a great deal of importance in relieving the pain associated with these fractures, and are becoming the standard of care. METHODS: These procedures involve the injection of polymethylmethacrylate (PMMA) into the vertebral body. However, these techniques have their complications, and among these, pulmonary embolism is one of the most feared. It is attributable to the passage of cement into the pulmonary vasculature. After encountering a case of PMMA embolism in our practice, we decided to highlight this topic and discuss the incidence, clinical presentation, diagnosis, and treatment of cement pulmonary embolisms.     

Comparison of immediate complete denture, tooth and implant-supported overdenture on vertical dimension and muscle activity

PURPOSE

To compare the changes in the occlusal vertical dimension, activity of masseter muscles and biting force after insertion of immediate denture constructed with conventional, tooth-supported and Implant-supported immediate mandibular complete denture.

MATERIALS AND METHODS

Patients were selected and treatment was carried out with all the three different concepts i.e, immediate denture constructed with conventional (Group A), tooth-supported (Group B) and Implant-supported (Group C) immediate mandibular complete dentures. Parameters of evaluation and comparison were occlusal vertical dimension measured by radiograph (at three different time intervals), Masseter muscle electromyographic (EMG) measurement by EMG analysis (at three different positions of jaws) and bite force measured by force transducer (at two different time intervals). The obtained data were statistically analyzed by using ANOVA-F test at 5% level of significance. If the F test was significant, Least Significant Difference test was performed to test further significant differences between variables.

RESULTS

Comparison between mean differences in occlusal vertical dimension for tested groups showed that it was only statistically significant at 1 year after immediate dentures insertion. Comparison between mean differences in wavelet packet coefficients of the electromyographic signals of masseter muscles for tested groups was not significant at rest position, but significant at initial contact position and maximum voluntary clench position. Comparison between mean differences in maximum biting force for tested groups was not statistically significant at 5% level of significance.

CONCLUSION

Immediate complete overdentures whether tooth or implant supported prosthesis is recommended than totally mucosal supported prosthesis.     

Diabetologist's perspective on practice of evidence based diabetes management in India

Diabetes demands early diagnosis, prompt treatment, continuous monitoring and follow up. Physicians play a pivotal role in diabetes management. However, evidence suggests that sub-optimal knowledge of guidelines and other issues may lead to ineffective management and poor patient outcomes. The aim of this research was to identify clinical diabetologist's perspectives on evidence based diabetes management, benefits of and barriers to the practice of evidence based guidelines in management of type 2 diabetes. Clinical diabetologists were administered a semi-structured questionnaire. Qualitative responses were analysed to identify key words, phrases and concepts from respondents. Majority of diabetologist (78.2%) preferred ADA guidelines alone or in combination with others guidelines where as 12.7% diabetologist follow all the guidelines on case by case basis. 27% and 25% diabetologists opined that guidelines ensure uniform standard of care across patient and achievement of diabetes management goals respectively. Poor awareness among physicians (22.7%), western guidelines being not applicable to Indian patients (22.7%), cost to patient (18.2%) were some of the barrier to practice of evidence based diabetes management. Some of the mechanism suggested to improve the practice of evidence based diabetes management included education of physicians in EBM (28.9%), making practice of evidence based guidelines legally binding (10.5%) and wider dissemination of existing guidelines (7.8%).     

Use of recombinant human parathyroid hormone in hypocalcemic cardiomyopathy

Hypocalcemia secondary to hypoparathyroidism is a rare cause of congestive heart failure. However, its early recognition and treatment lead to significant improvement in cardiac function. We report a middle-aged woman presenting with symptoms of heart failure with a serum calcium level of 3.7 mg/dl and a serum inorganic phosphate level of 17.6 mg/dl 22 years after subtotal thyroidectomy. Besides calcium and calcitriol supplementation, she was the first patient with severe hypocalcemic cardiomyopathy to be given off-label recombinant human parathyroid hormone (PTH) because of an elevated serum calcium-phosphate product. We discuss the management and outcome of the patient and then present a brief review of similar previously reported cases. We also describe the pivotal role of calcium ion and the potential role of PTH in maintaining myocardial contractility, effective natriuresis, and possible pathogenic mechanisms contributing to heart failure secondary to hypocalcemia and hypoparathyroidism.