Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings.

Permanent neonatal diabetes (PNDM) is a rare genetic condition characterized by hyperglycemia, insulinopenia, and failure to thrive beginning in the first 6 months of life. Recessive mutations in INS lead to decreased production of insulin via a variety of mechanisms. We present a case of two brothers, born to consanguineous parents, with a novel homozygous intronic variant in the INS gene. Each patient presented with intrauterine growth restriction (IUGR) and significant hyperglycemia within the first 24 h of life. All the grandparents have a diagnosis of diabetes, one of them requiring insulin treatment and the parents currently deny personal histories of diabetes. Although this mutation has not previously been described, given the segregation of the mutation, absence of heterozygosity (AOH) in the genomic region encompassing the INS locus, documented insulinopenia, and high neonatal insulin requirements, we suspect that this variant is pathogenic. Possible implications for personalized treatment of the underlying molecular etiology for an individual's diabetes are discussed.

Thromboembolism in high-risk aesthetic surgery: experience with 17 patients in a review of 3871 consecutive cases.

BACKGROUND: Pulmonary embolism (PE) represents the third most frequent cause of postoperative death in the United States. In recent years, there has been an increasing demand among plastic surgeons for patient safety guidelines that specifically address the complications of deep venous thrombosis (DVT) and PE in relation to aesthetic surgery. OBJECTIVE: In this study, we review 3871 consecutive major body contouring procedures performed over the last 8 years in our surgery center in an attempt to identify common factors that could have contributed to the onset of DVT/PE in 17 of these patients. METHODS: We conducted a retrospective chart review to identify common factors associated with the occurrence of DVT/PE in high risk patients who undergo aesthetic surgery. RESULTS: Among these patients, we calculated the following incidence rates: 0.46% for DVT and 0.08% for PE. We discovered that a culmination of factors working synergistically play a significant role in the development of DVT/PE. CONCLUSIONS: We conclude that a carefully planned, comprehensive, appropriately enforced protocol is necessary to reduce the rate of thromboembolic events. Practical safety measures and technical recommendations are presented that strongly encourage the use of thromboprophylaxis during the pre-, intra-, and postoperative phases of aesthetic surgical procedures. We feel that DVT and PE prevention should involve a partnership between patient and surgeon.