Pseudohypoparathyroidism type 1a with congenital hypothyroidism

Pseudohypoparathyroidism type la (PHP-1a) is an uncommon disorder that results from an inactivating mutation in the GNAS gene. It can present with resistance to several hormones, in addition to parathyroid hormone (PTH). Patients may have the classic Albright's hereditary osteodystrophy (AHO) phenotype and can develop resistance to thyroid stimulating hormone (TSH), gonadotropins, growth hormone releasing hormone (GHRH), and other hormones that rely on the Gsalpha protein to regulate signal transmission at their receptors. We report two siblings with PHP-1a and congenital hypothyroidism. The patients were found to have a heterozygous mutation at nucleotide 305 in exon 4 (c305C-->A) of the GNAS gene, which has not been previously linked to congenital hypothyroidism.     

Endocrine Disruptors and the Breast: Early Life Effects and Later Life Disease

Breast cancer risk has both heritable and environment/lifestyle components. The heritable component is a small contribution (5–27 %), leaving the majority of risk to environment (e.g., applied chemicals, food residues, occupational hazards, pharmaceuticals, stress) and lifestyle (e.g., physical activity, cosmetics, water source, alcohol, smoking). However, these factors are not well-defined, primarily due to the enormous number of factors to be considered. In both humans and rodent models, environmental factors that act as endocrine disrupting compounds (EDCs) have been shown to disrupt normal mammary development and lead to adverse lifelong consequences, especially when exposures occur during early life. EDCs can act directly or indirectly on mammary tissue to increase sensitivity to chemical carcinogens or enhance development of hyperplasia, beaded ducts, or tumors. Protective effects have also been reported. The mechanisms for these changes are not well understood. Environmental agents may also act as carcinogens in adult rodent models, directly causing or promoting tumor development, typically in more than one organ. Many of the environmental agents that act as EDCs and are known to affect the breast are discussed. Understanding the mechanism(s) of action for these compounds will be critical to prevent their effects on the breast in the future.     

Quality of life after sleeve gastrectomy and adjustable gastric banding

BackgroundWith the addition of laparoscopic vertical sleeve gastrectomy (SG) to the bariatric surgery procedural toolkit, patients desiring a restrictive bariatric procedure often choose between adjustable gastric banding (LAGB) and SG. One study compared quality of life after these 2 procedures and found no difference. The purpose of our study was to re-evaluate the postoperative quality of life in LAGB and SG patients at a military teaching hospital in the United States.MethodsA retrospective review of 108 consecutive laparoscopic restrictive bariatric procedures performed within 15 months at a Department of Defense hospital was conducted. Of these 108 patients, 69 had undergone laparoscopic vertical SG and 39 LAGB. A validated quality of life questionnaire (Bariatric Quality of Life) was conducted a mean of 9.3 ± 3.2 months (range 5–16) postoperatively. The weight loss and standard laboratory parameters were measured at 0, 1, 3, 6, and 12 months.ResultsThe quality of life assessment revealed significantly better scores after SG than after LAGB (66.5 versus 57.9, P = .0002). The excess weight loss and excess body mass index loss at 3, 6, and 12 months postoperatively were significantly greater in the laparoscopic SG group. The patients demonstrated a clear preference over time for SG once it was offered.ConclusionEarly postoperative quality of life was superior after SG than after LAGB. SG also resulted in superior early excess weight loss. In a practice not constrained by reimbursement, these findings were associated with increased patient choice of SG after it began to be offered.