פרסומים

Pseudohypoparathyroidism type 1a (PHP1a) is a genetic disorder caused by heterozygous loss-of-function mutations on the maternal allele of the GNAS gene. Patients with PHP1a predominantly exhibit parathyroid hormone (PTH) resistance and physical features of Albright's hereditary osteodystrophy. We report two unrelated cases with PHP1a who developed tertiary hyperparathyroidism (HPT). Molecular analyses of the GNAS gene identified a previously known heterozygous 4-bp deletion (c. 565\_568delGACT) in exon 7 in case 1 and a novel heterozygous missense mutation (p.Lys233Glu) in exon 9 in case 2. Both patients developed tertiary HPT associated with hyperfunctioning parathyroid glands during long-term treatment of hypocalcemia. Case 1 had severe osteoporosis and underwent parathyroidectomy. Case 2 was asymptomatic with no evidence of bone diseases associated with tertiary HPT. PHP1a patients are at risk of developing tertiary HPT and should be treated with sufficient doses of calcium and vitamin D to achieve serum PTH levels within the mid - normal to double the upper limit of the normal range, regardless of serum calcium levels.

Many people do not understand the concepts of life expectancy and longevity risk, poten- tially leading them to under-save for retirement or to not purchase longevity insurance, which in turn could reduce wellbeing at older ages. We investigate alternative ways to in- crease the salience of both concepts, allowing us to assess whether these change peoples’ perceptions and financial decision making. Using randomly-assigned vignettes providing subjects with information about either life expectancy or longevity, we show that merely prompting people to think about financial decisions changes their perceptions regarding subjective survival probabilities. Moreover, this information also boosts respondents’ inter- est in saving and demand for longevity insurance. In particular, longevity information in- f luences both subjective survival probabilities and financial decisions, while life expectancy information influences only annuity choices. We provide some evidence that many people are simply unaware of longevity risk.

The requirement for low cost manufacturing makes bacterial cells a logical platform for the production of recombinant subunit vaccines for malaria. However, protein solubility has been a major stumbling block with prokaryotic expression systems. Notable examples include the transmission blocking vaccine candidates, Pfs25 and Pfs48/45, which are almost entirely insoluble when expressed as recombinant proteins in Escherichia coli. Various solubility tags have been used with limited success in improving solubility, although recent studies with granule lattice protein 1 (Grl1p) from the ciliated protozoan, Tetrahymena thermophila, have shown promise. Here, we examine a related solubility tag, granule lattice protein 3 (Grl3p) from T. thermophila, and compare it to both Grl1p and the well-studied maltose binding protein (MBP) used to improve the solubility of multiple protein targets. We find that Grl3p performs comparably to Grl1p when linked to Pfs25 but significantly improves solubility when paired with Pfs48/45.

Abstract Lycaon pictus (Temminck, 1820), the African wild dog, is a moderately sized carnivore with dog-like appearance and irregularly mottled black, yellow-brown, and white pelage. It has a head–body length of 76–112 cm, tail length of 30–41 cm, shoulder height of 61–78 cm, and body weight of 17–36 kg. Lycaon pictus has four toes on each foot, differentiating it from other canids; is the only extant species within the genus with no subspecies; and is unlikely to be confused with any other canid. Lycaon pictus was once widespread throughout sub-Saharan Africa inhabiting nearly all environments and now inhabits grasslands, montane savanna, and open woodlands. Lycaon pictus is recognized as ``Endangered'' (EN) by the U.S. Fish and Wildlife Service and the International Union for Conservation of Nature.

Abstract Mazama rufina (Pucheran, 1851) is a small endemic cervid of the Andes of northern South America, commonly called the dwarf red brocket or little red brocket. It stands about 45 cm tall at the shoulder, has a red coloring on the body, with darker brown to black on the face and legs. Mazama rufina is one of eight species in the genus Mazama. It is generally found in the Andes mountain range that spans parts of Ecuador, Colombia, Peru, and Venezuela inhabiting the páramo and remaining patches of forest. It is currently considered ``Vulnerable'' (VU) by the International Union for Conservation of Nature and Natural Resources, mostly due to habitat destruction from encroaching human populations.

BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) is associated with metabolic syndrome, which often includes obesity, diabetes, and dyslipidemia. Several studies in mice and humans have implicated the involvement of the gut microbiome in NAFLD. While cannabis and its phytocannabinoids may potentially be beneficial for treating metabolic disorders such as NAFLD, their effects on liver diseases and gut microbiota profile have yet to be addressed. In this study, we evaluated the therapeutic effects of the two major cannabinoids, delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD), on NAFLD progression. METHODS: NAFLD was induced by feeding mice a high fat-cholesterol diet (HFCD) for 6 weeks. During this period, the individual cannabinoids, THC or CBD, were added to the experimental diets at a concentration of 2.5 or 2.39 mg/kg. Profile of lipids, liver enzymes, glucose tolerance, and gene expression related to carbohydrate lipids metabolism and liver inflammation was analyzed. The effect of THC or CBD on microbiota composition in the gut was evaluated. RESULTS: While not alleviating hepatic steatosis, THC or CBD treatment influenced a number of parameters in the HFCD mouse model. CBD increased food intake, improved glucose tolerance, reduced some of the inflammatory response including TNFa and iNOS, and partially mitigated the microbiome dysbiosis observed in the HFCD fed mice. THC produced a much weaker response, only slightly reducing inflammatory-related gene expression and microbiome dysbiosis. CONCLUSIONS: The results of this study indicate the potential therapeutic effects of individual phytocannabinoids are different from the effects of the cannabis plant possessing a mixture of compounds. While CBD may help ameliorate symptoms of NAFLD, THC alone may not be as effective. This disparity can putatively be explained based on changes in the gut microbiota.

AIM: To describe the changes in corneal graft thickness following ultrathin Descemet's Stripping Automated Endothelial Keratoplasty (UT-DSAEK) comparing pre- and postoperative values over a 24-month period. METHODS: In this retrospective single-center case series, patients who received eye bank-prepared tissues for UT-DSAEK surgery were included. Preoperative and postoperative graft thickness measurements were determined in the eye bank and in clinic using anterior segment optical coherence tomography (AS-OCT) images. Graft thickness measurements and their percentage change between preoperative values and values at 1 day, 1 week and 1, 6, 12, 24 months were calculated. RESULTS: In total, 47 eyes of 47 patients with a mean age of 69 $\pm$ 11 years (29 males) were included. Twnty-three patients had Fuchs' endothelial dystrophy (49%) and the remaining 24 had pseudophakic bullous keratopathy (51%). In total, 29/47 eyes underwent UT-DSAEK alone (62%) and 18/47 received combined cataract surgery as a triple procedure (38%). Preoperative donor graft thickness was 92 $\pm$ 28 $μ$m. Compared to preoperative values, where graft thickness increased to 194 $\pm$ 101.3 $μ$m at 1 day, 151.1 $\pm$ 71.4 $μ$m at 1 week, and 108.4 $\pm$ 52.5 $μ$m at 1 month. Graft thickness continued to gradually decrease over time until 6 months (91.7 $\pm$ 33.6 $μ$m), and then plateaued at 12 months (83.9 $\pm$ 25.0 $μ$m), showing minimal changes at 2 years (101.4 $\pm$ 37.5 $μ$m). CONCLUSION: Preoperative DSAEK graft thickness measurements as reported by the eye bank are a valid approximation of DSAEK graft thickness at 6 months after surgery and these measurements tend to stabilize over time up to 2 years after surgery.